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Feasibility of newborn screening for pyridoxine-dependent epilepsy. Mol Genet Metab. 2024 Dec 16; 144(1):109002.
Pauly K, Woontner M, Abdenur JE, Chaudhari BP, Gosselin R, Kripps KA, Thomas JA, Wempe MF, Gospe SM, Coughlin CR. PMID: 39729892.
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Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease. EMBO Mol Med. 2024 Nov 20.
Van Haute L, Páleníková P, Tang JX, Nash PA, Simon MT, Pyle A, Oláhová M, Powell CA, Rebelo-Guiomar P, Stover A, Champion M, Deshpande C, Baple EL, Stals KL, Ellard S, Anselem O, Molac C, Petrilli G, Loeuillet L, Grotto S, Attie-Bitach T, Abdenur JE, Taylor RW, Minczuk M. PMID: 39567835.
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PubMed Mentions: Fields:
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Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions. Genes (Basel). 2024 Jun 26; 15(7).
Mares Beltran CF, Tise CG, Barrick R, Niehaus AD, Sponberg R, Chang R, Enns GM, Abdenur JE. PMID: 39062617; PMCID: PMC11275617.
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Translation:
HumansPHPublic Health
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Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation. Mol Genet Metab Rep. 2024 Mar; 38:101025.
Huang WL, Steenari MR, Barrick R, Simon MT, Chang R, Eftekharian SS, Stover A, Schwartz PH, Latini A, Abdenur JE. PMID: 38125072; PMCID: PMC10731372.
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Misdiagnosis of Total Parental Nutrition-Related Riboflavin Deficiency: Three Case Reports of Diagnostic Error. AJP Rep. 2023 Jan; 13(1):e11-e16.
Shafer GJ, Abdenur JE, Dhar V, Mikhael M. PMID: 36923230; PMCID: PMC10010894.
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Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy. Neurology. 2022 Dec 05; 99(23):e2627-e2636.
Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MCH, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM, van Karnebeek C, International PDE Consortium. PMID: 36008148; PMCID: PMC9754645.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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Riboflavin deficiency due to vitamin shortage in neonates with parenteral nutrition dependence. Mol Genet Metab. 2022 Sep-Oct; 137(1-2):223-224.
Mares Beltran C, Boyer MA, Denslow A, Jun A, Mikhael M, Abdenur JE. PMID: 36008249.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency. Mol Genet Metab Rep. 2022 Sep; 32:100885.
Huang Y, Chang R, Abdenur JE. PMID: 35789945; PMCID: PMC9249945.
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PubMed Mentions:
3
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Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy. Mol Genet Metab. 2022 04; 135(4):350-356.
Tseng LA, Abdenur JE, Andrews A, Aziz VG, Bok LA, Boyer M, Buhas D, Hartmann H, Footitt EJ, Grønborg S, Janssen MCH, Longo N, Lunsing RJ, MacKenzie AE, Wijburg FA, Gospe SM, Coughlin CR, van Karnebeek CDM. PMID: 35279367.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene. Nat Commun. 2022 02 04; 13(1):705.
Arnadottir GA, Oddsson A, Jensson BO, Gisladottir S, Simon MT, Arnthorsson AO, Katrinardottir H, Fridriksdottir R, Ivarsdottir EV, Jonasdottir A, Jonasdottir A, Barrick R, Saemundsdottir J, le Roux L, Oskarsson GR, Asmundsson J, Steffensen T, Gudmundsson KR, Ludvigsson P, Jonsson JJ, Masson G, Jonsdottir I, Holm H, Jonasson JG, Magnusson OT, Thorarensen O, Abdenur J, Norddahl GL, Gudbjartsson DF, Bjornsson HT, Thorsteinsdottir U, Sulem P, Stefansson K. PMID: 35121750; PMCID: PMC8817032.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2021 01; 44(1):178-192.
Coughlin CR, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. PMID: 33200442.
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PubMed Mentions:
24 Fields:
Translation:
Humans
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ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder. Am J Med Genet A. 2021 01; 185(1):157-167.
Simon MT, Eftekharian SS, Ferdinandusse S, Tang S, Naseri T, Reupena MS, McGarvey ST, Minster RL, Weeks DE, Samoan Obesity, Lifestyle, and Genetic Adaptations (OLaGA) Study Group, Nguyen DD, Lee S, Ellsworth KA, Vaz FM, Dimmock D, Pitt J, Abdenur JE. PMID: 33112498; PMCID: PMC7746601.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet. Mol Genet Metab Rep. 2020 Sep; 24:100617.
Abdenur JE, Sowa M, Simon M, Steenari M, Skaar J, Eftekharian S, Chang R, Ferdinandusse S, Pitt J. PMID: 32642440; PMCID: PMC7334802.
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11
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Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency. Mol Genet Metab Rep. 2020 Sep; 24:100608.
Chapel-Crespo CC, Villalba R, Wang R, Boyer M, Chang R, Waterham HR, Abdenur JE. PMID: 32528852; PMCID: PMC7280558.
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PubMed Mentions:
3
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The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency. Genet Med. 2020 01; 22(1):199-209.
Keshavan N, Abdenur J, Anderson G, Assouline Z, Barcia G, Bouhikbar L, Chakrapani A, Cleary M, Cohen MC, Feillet F, Fratter C, Hauser N, Jacques T, Lam A, McCullagh H, Phadke R, Rötig A, Sharrard M, Simon M, Smith C, Sommerville EW, Taylor RW, Yue WW, Rahman S. PMID: 31462754.
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PubMed Mentions:
6 Fields:
Translation:
HumansCells
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Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients. Mol Genet Metab. 2019 Sep - Oct; 128(1-2):113-121.
Chapel-Crespo C, Gavrilov D, Sowa M, Myers J, Day-Salvatore DL, Lynn H, Regier D, Starin D, Steenari M, Schoonderwoerd K, Abdenur JE. PMID: 31395333.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G. Neurol Genet. 2019 Apr; 5(2):e315.
Lee AJ, Jones KA, Butterfield RJ, Cox MO, Konersman CG, Grosmann C, Abdenur JE, Boyer M, Beson B, Wang C, Dowling JJ, Gibbons MA, Ballard A, Janas JS, Leshner RT, Donkervoort S, Bönnemann CG, Malicki DM, Weiss RB, Moore SA, Mathews KD. PMID: 31041397; PMCID: PMC6454397.
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10
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Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes. Mol Genet Metab. 2019 01; 126(1):53-63.
Simon MT, Eftekharian SS, Stover AE, Osborne AF, Braffman BH, Chang RC, Wang RY, Steenari MR, Tang S, Hwu PW, Taft RJ, Benke PJ, Abdenur JE. PMID: 30473481; PMCID: PMC7707637.
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PubMed Mentions:
18 Fields:
Translation:
Humans
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Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study. Eur J Paediatr Neurol. 2018 May; 22(3):369-379.
Khaikin Y, Sidky S, Abdenur J, Anastasi A, Ballhausen D, Buoni S, Chan A, Cheillan D, Dorison N, Goldenberg A, Goldstein J, Hofstede FC, Jacquemont ML, Koeberl DD, Lion-Francois L, Lund AM, Mention K, Mundy H, O'Rourke D, Pitelet G, Raspall-Chaure M, Tassini M, Billette de Villemeur T, Williams M, Salomons GS, Mercimek-Andrews S. PMID: 29506905.
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PubMed Mentions:
15 Fields:
Translation:
Humans
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Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy. Mol Genet Metab. 2018 05; 124(1):57-63.
Boyer M, Sowa M, Di Meo I, Eftekharian S, Steenari MR, Tiranti V, Abdenur JE. PMID: 29526615.
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PubMed Mentions:
18 Fields:
Translation:
HumansPHPublic Health
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An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants. J Inherit Metab Dis. 2018 03; 41(2):169-180.
Pop A, Williams M, Struys EA, Monné M, Jansen EEW, De Grassi A, Kanhai WA, Scarcia P, Ojeda MRF, Porcelli V, van Dooren SJM, Lennertz P, Nota B, Abdenur JE, Coman D, Das AM, El-Gharbawy A, Nuoffer JM, Polic B, Santer R, Weinhold N, Zuccarelli B, Palmieri F, Palmieri L, Salomons GS. PMID: 29238895; PMCID: PMC5830478.
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PubMed Mentions:
16 Fields:
Translation:
HumansCells
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Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California. Mol Genet Metab. 2017 11; 122(3):76-84.
Gallant NM, Leydiker K, Wilnai Y, Lee C, Lorey F, Feuchtbaum L, Tang H, Carter J, Enns GM, Packman S, Lin HJ, Wilcox WR, Cederbaum SD, Abdenur JE. PMID: 28711408.
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PubMed Mentions:
15 Fields:
Translation:
HumansCellsPHPublic Health
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Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. Mitochondrion. 2017 05; 34:84-90.
Simon MT, Ng BG, Friederich MW, Wang RY, Boyer M, Kircher M, Collard R, Buckingham KJ, Chang R, Shendure J, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian Genomics, Van Hove JLK, Freeze HH, Abdenur JE. PMID: 28216230; PMCID: PMC5444868.
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PubMed Mentions:
12 Fields:
Translation:
HumansCells
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A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene. Nucleosides Nucleotides Nucleic Acids. 2017 May 04; 36(5):317-327.
Nguyen KV, Leydiker K, Wang R, Abdenur J, Nyhan WL. PMID: 28102781.
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PubMed Mentions:
4 Fields:
Translation:
HumansCells
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Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders. Mol Genet Metab. 2016 11; 119(3):223-231.
Vockley J, Charrow J, Ganesh J, Eswara M, Diaz GA, McCracken E, Conway R, Enns GM, Starr J, Wang R, Abdenur JE, Sanchez-de-Toledo J, Marsden DL. PMID: 27590926; PMCID: PMC5083220.
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PubMed Mentions:
39 Fields:
Translation:
HumansCells
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Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion. Mol Genet Metab. 2016 09; 119(1-2):91-9.
Stiles AR, Simon MT, Stover A, Eftekharian S, Khanlou N, Wang HL, Magaki S, Lee H, Partynski K, Dorrani N, Chang R, Martinez-Agosto JA, Abdenur JE. PMID: 27448789.
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PubMed Mentions:
55 Fields:
Translation:
HumansAnimalsCellsPHPublic Health
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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat. 2016 07; 37(7):653-60.
Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC, University of Washington Center for Mendelian Genomics, Matthijs G, Freeze HH. PMID: 26931382; PMCID: PMC4907823.
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PubMed Mentions:
25 Fields:
Translation:
HumansCells
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Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes. Orphanet J Rare Dis. 2015 Aug 20; 10:99.
Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ. PMID: 26289392; PMCID: PMC4545930.
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PubMed Mentions:
26 Fields:
Translation:
Humans
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New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria. JIMD Rep. 2016; 25:15-19.
Stiles AR, Venturoni L, Mucci G, Elbalalesy N, Woontner M, Goodman S, Abdenur JE. PMID: 26141459; PMCID: PMC5059180.
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PubMed Mentions:
18
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Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease. Mol Genet Metab. 2015 Aug; 115(4):161-7.
Stiles AR, Ferdinandusse S, Besse A, Appadurai V, Leydiker KB, Cambray-Forker EJ, Bonnen PE, Abdenur JE. PMID: 26026795; PMCID: PMC4852729.
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PubMed Mentions:
22 Fields:
Translation:
HumansCellsPHPublic Health
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Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. J Inherit Metab Dis. 2015 Sep; 38(5):905-14.
Huemer M, Karall D, Schossig A, Abdenur JE, Al Jasmi F, Biagosch C, Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J, Ebrahimi-Fakhari D, Konstantopoulou V, Leydiker K, Lourenco CM, Scholl-Bürgi S, Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W, Prokisch H, McFarland R. PMID: 25868664; PMCID: PMC4841446.
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PubMed Mentions:
22 Fields:
Translation:
Humans
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Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. PLoS Genet. 2015 Mar; 11(3):e1005097.
Simon M, Richard EM, Wang X, Shahzad M, Huang VH, Qaiser TA, Potluri P, Mahl SE, Davila A, Nazli S, Hancock S, Yu M, Gargus J, Chang R, Al-Sheqaih N, Newman WG, Abdenur J, Starr A, Hegde R, Dorn T, Busch A, Park E, Wu J, Schwenzer H, Flierl A, Florentz C, Sissler M, Khan SN, Li R, Guan MX, Friedman TB, Wu DK, Procaccio V, Riazuddin S, Wallace DC, Ahmed ZM, Huang T, Riazuddin S. PMID: 25807530; PMCID: PMC4373692.
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PubMed Mentions:
63 Fields:
Translation:
HumansAnimalsCells
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Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014 Nov; 16(11):e1.
Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS, American College of Medical Genetics and Genomics. PMID: 25356975.
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PubMed Mentions:
188 Fields:
Translation:
Humans
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Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease. Mol Genet Metab Rep. 2014; 1:368-372.
Sremba LJ, Chang RC, Elbalalesy NM, Cambray-Forker EJ, Abdenur JE. PMID: 27896110; PMCID: PMC5121344.
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PubMed Mentions:
11
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Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study. J Inherit Metab Dis. 2014 Sep; 37(5):791-9.
Wang RY, Monuki ES, Powers J, Schwartz PH, Watkins PA, Shi Y, Moser A, Shrier DA, Waterham HR, Nugent DJ, Abdenur JE. PMID: 24619150; PMCID: PMC4332804.
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PubMed Mentions:
10 Fields:
Translation:
HumansCells
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Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass. World J Pediatr. 2014 Feb; 10(1):83-5.
Wang RY, Chang RC, Sowa ME, Chang AC, Abdenur JE. PMID: 24464670.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening. Mol Genet Metab. 2014 Apr; 111(4):484-92.
Merritt JL, Vedal S, Abdenur JE, Au SM, Barshop BA, Feuchtbaum L, Harding CO, Hermerath C, Lorey F, Sesser DE, Thompson JD, Yu A. PMID: 24503138.
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PubMed Mentions:
26 Fields:
Translation:
HumansPHPublic Health
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Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia. JIMD Rep. 2014; 14:29-35.
Simon M, Chang RC, Bali DS, Wong LJ, Peng Y, Abdenur JE. PMID: 24272679; PMCID: PMC4213341.
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PubMed Mentions:
2
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Reduction in newborn screening metabolic false-positive results following a new collection protocol. Genet Med. 2014 Jun; 16(6):477-83.
Morris M, Fischer K, Leydiker K, Elliott L, Newby J, Abdenur JE. PMID: 24177054.
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PubMed Mentions:
10 Fields:
Translation:
HumansPHPublic Health
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Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation. Mol Genet Metab. 2013 Dec; 110(4):484-9.
Lieu MT, Ng BG, Rush JS, Wood T, Basehore MJ, Hegde M, Chang RC, Abdenur JE, Freeze HH, Wang RY. PMID: 24144945; PMCID: PMC3909743.
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PubMed Mentions:
10 Fields:
Translation:
HumansCells
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Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet. 2013 Jul 11; 93(1):29-41.
Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ, UK10K Consortium, Lin YY, Muntoni F. PMID: 23768512; PMCID: PMC3710768.
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PubMed Mentions:
94 Fields:
Translation:
HumansAnimalsCells
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Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. Hum Mutat. 2013 Mar; 34(3):446-52.
Miyake N, Yano S, Sakai C, Hatakeyama H, Matsushima Y, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Ogata K, Goto Y, Matsumoto N. PMID: 23281071.
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PubMed Mentions:
46 Fields:
Translation:
HumansCells
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A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. Am J Hum Genet. 2012 Jul 13; 91(1):202-8.
Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL. PMID: 22748208; PMCID: PMC3397260.
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PubMed Mentions:
48 Fields:
Translation:
HumansAnimalsCells
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Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann Neurol. 2012 Apr; 71(4):520-30.
Friedman J, Roze E, Abdenur JE, Chang R, Gasperini S, Saletti V, Wali GM, Eiroa H, Neville B, Felice A, Parascandalo R, Zafeiriou DI, Arrabal-Fernandez L, Dill P, Eichler FS, Echenne B, Gutierrez-Solana LG, Hoffmann GF, Hyland K, Kusmierska K, Tijssen MA, Lutz T, Mazzuca M, Penzien J, Poll-The BT, Sykut-Cegielska J, Szymanska K, Thöny B, Blau N. PMID: 22522443.
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PubMed Mentions:
56 Fields:
Translation:
HumansCells
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Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. Mol Genet Metab. 2012 May; 106(1):55-61.
Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY. PMID: 22424739.
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PubMed Mentions:
30 Fields:
Translation:
HumansPHPublic Health
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Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency. Mol Genet Metab. 2012 May; 106(1):104-7.
Williams TB, Daniels M, Puthenveetil G, Chang R, Wang RY, Abdenur JE. PMID: 22424738.
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PubMed Mentions:
14 Fields:
Translation:
Humans
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Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards. Mol Genet Metab. 2012 Jan; 105(1):126-31.
Puckett RL, Orsini JJ, Pastores GM, Wang RY, Chang R, Saavedra-Matiz CA, Torres PA, Zeng B, Caggana M, Lorey F, Abdenur JE. PMID: 22115770.
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PubMed Mentions:
7 Fields:
Translation:
HumansPHPublic Health
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Initial experience in the treatment of inherited mitochondrial disease with EPI-743. Mol Genet Metab. 2012 Jan; 105(1):91-102.
Enns GM, Kinsman SL, Perlman SL, Spicer KM, Abdenur JE, Cohen BH, Amagata A, Barnes A, Kheifets V, Shrader WD, Thoolen M, Blankenberg F, Miller G. PMID: 22115768.
View in:
PubMed Mentions:
75 Fields:
Translation:
HumansCellsCTClinical Trials
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Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med. 2011 Mar; 13(3):230-54.
McHugh D, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, Åhlman H, Allen JJ, Antonozzi I, Archer S, Au S, Auray-Blais C, Baker M, Bamforth F, Beckmann K, Pino GB, Berberich SL, Binard R, Boemer F, Bonham J, Breen NN, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Cariappa R, Carlisle C, Caruso U, Cassanello M, Castilla AM, Ramos DE, Chakraborty P, Chandrasekar R, Ramos AC, Cheillan D, Chien YH, Childs TA, Chrastina P, Sica YC, de Juan JA, Colandre ME, Espinoza VC, Corso G, Currier R, Cyr D, Czuczy N, D'Apolito O, Davis T, de Sain-Van der Velden MG, Delgado Pecellin C, Di Gangi IM, Di Stefano CM, Dotsikas Y, Downing M, Downs SM, Dy B, Dymerski M, Rueda I, Elvers B, Eaton R, Eckerd BM, El Mougy F, Eroh S, Espada M, Evans C, Fawbush S, Fijolek KF, Fisher L, Franzson L, Frazier DM, Garcia LR, Bermejo MS, Gavrilov D, Gerace R, Giordano G, Irazabal YG, Greed LC, Grier R, Grycki E, Gu X, Gulamali-Majid F, Hagar AF, Han L, Hannon WH, Haslip C, Hassan FA, He M, Hietala A, Himstedt L, Hoffman GL, Hoffman W, Hoggatt P, Hopkins PV, Hougaard DM, Hughes K, Hunt PR, Hwu WL, Hynes J, Ibarra-González I, Ingham CA, Ivanova M, Jacox WB, John C, Johnson JP, Jónsson JJ, Karg E, Kasper D, Klopper B, Katakouzinos D, Khneisser I, Knoll D, Kobayashi H, Koneski R, Kozich V, Kouapei R, Kohlmueller D, Kremensky I, la Marca G, Lavochkin M, Lee SY, Lehotay DC, Lemes A, Lepage J, Lesko B, Lewis B, Lim C, Linard S, Lindner M, Lloyd-Puryear MA, Lorey F, Loukas YL, Luedtke J, Maffitt N, Magee JF, Manning A, Manos S, Marie S, Hadachi SM, Marquardt G, Martin SJ, Matern D, Mayfield Gibson SK, Mayne P, McCallister TD, McCann M, McClure J, McGill JJ, McKeever CD, McNeilly B, Morrissey MA, Moutsatsou P, Mulcahy EA, Nikoloudis D, Norgaard-Pedersen B, Oglesbee D, Oltarzewski M, Ombrone D, Ojodu J, Papakonstantinou V, Reoyo SP, Park HD, Pasquali M, Pasquini E, Patel P, Pass KA, Peterson C, Pettersen RD, Pitt JJ, Poh S, Pollak A, Porter C, Poston PA, Price RW, Queijo C, Quesada J, Randell E, Ranieri E, Raymond K, Reddic JE, Reuben A, Ricciardi C, Rinaldo P, Rivera JD, Roberts A, Rocha H, Roche G, Greenberg CR, Mellado JM, Juan-Fita MJ, Ruiz C, Ruoppolo M, Rutledge SL, Ryu E, Saban C, Sahai I, García-Blanco MI, Santiago-Borrero P, Schenone A, Schoos R, Schweitzer B, Scott P, Seashore MR, Seeterlin MA, Sesser DE, Sevier DW, Shone SM, Sinclair G, Skrinska VA, Stanley EL, Strovel ET, Jones AL, Sunny S, Takats Z, Tanyalcin T, Teofoli F, Thompson JR, Tomashitis K, Domingos MT, Torres J, Torres R, Tortorelli S, Turi S, Turner K, Tzanakos N, Valiente AG, Vallance H, Vela-Amieva M, Vilarinho L, von Döbeln U, Vincent MF, Vorster BC, Watson MS, Webster D, Weiss S, Wilcken B, Wiley V, Williams SK, Willis SA, Woontner M, Wright K, Yahyaoui R, Yamaguchi S, Yssel M, Zakowicz WM. PMID: 21325949.
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155 Fields:
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HumansPHPublic Health
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Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening. Mol Genet Metab. 2011 May; 103(1):92-5.
Leydiker KB, Neidich JA, Lorey F, Barr EM, Puckett RL, Lobo RM, Abdenur JE. PMID: 21354840.
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PubMed Mentions:
6 Fields:
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HumansPHPublic Health
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Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology. 2010 Jul 06; 75(1):64-71.
Brun L, Ngu LH, Keng WT, Ch'ng GS, Choy YS, Hwu WL, Lee WT, Willemsen MA, Verbeek MM, Wassenberg T, Régal L, Orcesi S, Tonduti D, Accorsi P, Testard H, Abdenur JE, Tay S, Allen GF, Heales S, Kern I, Kato M, Burlina A, Manegold C, Hoffmann GF, Blau N. PMID: 20505134.
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82 Fields:
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Humans
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Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry. J Pediatr. 2010 Aug; 157(2):271-5.
Tortorelli S, Turgeon CT, Lim JS, Baumgart S, Day-Salvatore DL, Abdenur J, Bernstein JA, Lorey F, Lichter-Konecki U, Oglesbee D, Raymond K, Matern D, Schimmenti L, Rinaldo P, Gavrilov DK. PMID: 20394947.
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14 Fields:
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HumansPHPublic Health
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Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria. Hum Mutat. 2010 Mar; 31(3):279-83.
Kranendijk M, Struys EA, Gibson KM, Wickenhagen WV, Abdenur JE, Buechner J, Christensen E, de Kremer RD, Errami A, Gissen P, Gradowska W, Hobson E, Islam L, Korman SH, Kurczynski T, Maranda B, Meli C, Rizzo C, Sansaricq C, Trefz FK, Webster R, Jakobs C, Salomons GS. PMID: 20020533.
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31 Fields:
Translation:
Humans
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Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms. Mol Genet Metab. 2010 Jun; 100(2):136-42.
Puckett RL, Lorey F, Rinaldo P, Lipson MH, Matern D, Sowa ME, Levine S, Chang R, Wang RY, Abdenur JE. PMID: 20307994.
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22 Fields:
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HumansPHPublic Health
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Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II. Mol Genet Metab. 2009 Dec; 98(4):406-11.
Wang RY, Cambray-Forker EJ, Ohanian K, Karlin DS, Covault KK, Schwartz PH, Abdenur JE. PMID: 19748810.
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18 Fields:
Translation:
Humans
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Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation. Neuromuscul Disord. 2009 May; 19(5):352-6.
Puckett RL, Moore SA, Winder TL, Willer T, Romansky SG, Covault KK, Campbell KP, Abdenur JE. PMID: 19342235; PMCID: PMC2698593.
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PubMed Mentions:
8 Fields:
Translation:
HumansCells
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Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency. Mol Genet Metab. 2009 Jan; 96(1):38-43.
Dhar SU, Scaglia F, Li FY, Smith L, Barshop BA, Eng CM, Haas RH, Hunter JV, Lotze T, Maranda B, Willis M, Abdenur JE, Chen E, O'Brien W, Wong LJ. PMID: 19027335.
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16 Fields:
Translation:
Humans
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Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat. 2008 Sep; 29(9):E150-72.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. PMID: 18546365; PMCID: PMC2891192.
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105 Fields:
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Humans
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The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle. Mol Genet Metab. 2008 Aug; 94(4):485-490.
Brautbar A, Wang J, Abdenur JE, Chang RC, Thomas JA, Grebe TA, Lim C, Weng SW, Graham BH, Wong LJ. PMID: 18495510.
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PubMed Mentions:
15 Fields:
Translation:
HumansCells
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Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy. Mitochondrion. 2008 Mar; 8(2):136-45.
Bannwarth S, Procaccio V, Rouzier C, Fragaki K, Poole J, Chabrol B, Desnuelle C, Pouget J, Azulay JP, Attarian S, Pellissier JF, Gargus JJ, Abdenur JE, Mozaffar T, Calvas P, Labauge P, Pages M, Wallace DC, Lambert JC, Paquis-Flucklinger V. PMID: 18078792.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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Carnitine deficiency in pregnancy. Obstet Gynecol. 2007 Aug; 110(2 Pt 2):480-2.
Donnelly CT, Hameed AB, Abdenur JE, Wing DA. PMID: 17666635.
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HumansCells
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Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis. Mol Genet Metab. 2006 Jan; 87(1):48-53.
Abdenur JE, Abeling N, Specola N, Jorge L, Schenone AB, van Cruchten AC, Chamoles NA. PMID: 16288991.
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PubMed Mentions:
14 Fields:
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Humans
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Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome. Genet Med. 2005 Feb; 7(2):143-6.
Grewal SS, Wynn R, Abdenur JE, Burton BK, Gharib M, Haase C, Hayashi RJ, Shenoy S, Sillence D, Tiller GE, Dudek ME, van Royen-Kerkhof A, Wraith JE, Woodard P, Young GA, Wulffraat N, Whitley CB, Peters C. PMID: 15714083.
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PubMed Mentions:
30 Fields:
Translation:
HumansCTClinical Trials
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Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase. J Biol Chem. 2003 Aug 01; 278(31):29016-23.
Casals N, Gómez-Puertas P, Pié J, Mir C, Roca R, Puisac B, Aledo R, Clotet J, Menao S, Serra D, Asins G, Till J, Elias-Jones AC, Cresto JC, Chamoles NA, Abdenur JE, Mayatepek E, Besley G, Valencia A, Hegardt FG. PMID: 12746442.
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PubMed Mentions:
5 Fields:
Translation:
HumansAnimalsCells
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Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations. Hum Mutat. 2002 Nov; 20(5):406.
Peters HL, Nefedov M, Lee LW, Abdenur JE, Chamoles NA, Kahler SG, Ioannou PA. PMID: 12402345.
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PubMed Mentions:
9 Fields:
Translation:
Humans
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Multiple acyl-CoA-dehydrogenase deficiency (MADD): use of acylcarnitines and fatty acids to monitor the response to dietary treatment. Pediatr Res. 2001 Jul; 50(1):61-6.
Abdenur JE, Chamoles NA, Schenone AB, Jorge L, Guinle A, Bernard C, Levandovskiy V, Fusta M, Lavorgna S. PMID: 11420420.
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3 Fields:
Translation:
HumansPHPublic Health
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MCAD deficiency. Acylcarnitines (AC) by tandem mass spectrometry (MS-MS) are useful to monitor dietary treatment. Adv Exp Med Biol. 1999; 466:353-63.
Abdenur JE, Chamoles NA, Specola N, Schenone AB, Jorge L, Guinle A, Bernard CI, Levandowskiy V, Lavorgna S. PMID: 10709663.
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Humans
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Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme. J Inherit Metab Dis. 1998 Aug; 21(6):624-30.
Abdenur JE, Chamoles NA, Guinle AE, Schenone AB, Fuertes AN. PMID: 9762597.
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PubMed Mentions:
21 Fields:
Translation:
HumansPHPublic Health
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Response to nutritional and growth hormone treatment in progeria. Metabolism. 1997 Aug; 46(8):851-6.
Abdenur JE, Brown WT, Friedman S, Smith M, Lifshitz F. PMID: 9258264.
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PubMed Mentions:
8 Fields:
Translation:
Humans
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Screening for the mitochondrial DNA A3243G mutation in children with insulin-dependent diabetes mellitus. Metabolism. 1997 Apr; 46(4):445-9.
Abad MM, Cotter PD, Fodor FH, Larson S, Ginsberg-Fellner F, Desnick RJ, Abdenur JE. PMID: 9109852.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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Molecular prenatal diagnosis of glycogen storage disease type Ia. Prenat Diagn. 1996 Apr; 16(4):333-6.
Qu Y, Abdenur JE, Eng CM, Desnick RJ. PMID: 8734807.
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5 Fields:
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HumansCells
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[Autoimmune hypoglycemia syndrome with specific anti-human insulin antibodies]. Medicina (B Aires). 1996; 56(3):279-83.
Cresto JC, Abdenur JE, Chamoles N, Bresciani P, Ruiz M, Massa B, Camberos MC, Basabe JC. PMID: 9035485.
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Humans
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Body composition and spontaneous growth hormone secretion in normal short stature children. J Clin Endocrinol Metab. 1994 Feb; 78(2):277-82.
Abdenur JE, Solans CV, Smith MM, Carman C, Pugliese MT, Lifshitz F. PMID: 8106611.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Alterations in spontaneous growth hormone (GH) secretion and the response to GH-releasing hormone in children with nonorganic nutritional dwarfing. J Clin Endocrinol Metab. 1992 Sep; 75(3):930-4.
Abdenur JE, Pugliese MT, Cervantes C, Fort P, Lifshitz F. PMID: 1517388.
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3 Fields:
Translation:
Humans
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The relationship between beta-endorphin and the growth hormone (GH) response to GH releasing hormone in prepubertal children. Endocr Res. 1992; 18(1):41-50.
Pugliese MT, Abdenur J, Fort P, Lifshitz F. PMID: 1576976.
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1 Fields:
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Humans
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[Insulin/glucagon relationship in spontaneous diabetic remission]. Medicina (B Aires). 1991; 51(3):195-203.
Cresto JC, Sires JM, Ramos O, Abdenur JE, Basabe JC. PMID: 1821901.
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Humans
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[Diabetic nephropathy in children: study using the amount of urinary albumin]. Medicina (B Aires). 1989; 49(1):1-6.
Abdenur JE, Eliceo MT, Sires JM, Cresto JC. PMID: 2630869.
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Humans
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Isolation of liver cells by perchlorate-citrate perfusion. In Vitro Cell Dev Biol. 1988 Aug; 24(8):733.
D'Alessandro V, Camberos MC, Giulive C, Abdenur JE, Basabe JC, Cresto JC. PMID: 2842283.
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PubMed Mentions: Fields:
Translation:
Animals