Walla M Al-Hertani

Title(s)Health Sciences Professor, Pediatrics
SchoolSchool of Medicine
Address1001 Health Sciences Road
Irvine CA 92697-3950
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    1. Evaluation of Electrical Impedance Myography as a Noninvasive Musculoskeletal Biomarker in Infantile- and Late-Onset Pompe Disease. Genet Med. 2026 Jul 06; 102647. van Gool R, Shah N, Cao A, Vrolix L, Cobb BS, Goodlett B, Johnson G, van der Heijden H, Yekedüz MK, Camelo C, Shulman J, Vogel AP, Stein MV, Sakho H, Kronn D, Todd N, Bodamer O, Rutkove S, Al-Hertani W, Upadhyay J. PMID: 42411350.
      View in: PubMed   Mentions:    Fields:    
    2. Multimodal Noninvasive Biomarker Characterization of Structural and Functional Alterations in ADSS1-Deficient Myopathy. J Inherit Metab Dis. 2026 May; 49(3):e70193. Yekedüz MK, van Gool R, van der Heijden H, Cobb BS, Shah N, Johnson G, Timpani CA, Shulman J, Rameh V, Hsu EE, LeSon C, Lee PY, Vogel AP, Al-Hertani W, Park HJ, Rybalka E, Rutkove SB, Upadhyay J. PMID: 42023707.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    3. A Multinational Study of Patient and Caregiver-Reported Insights Into ADSS1 Myopathy. Muscle Nerve. 2025 Dec; 72(6):1265-1272. Yekedüz MK, Choi Y, Kim SH, van Gool R, van der Heijden H, Vrolix L, Cobb BS, Rutkowe S, Shulman J, Beggs A, Nalini A, Baskar D, Baweja N, Kakkar P, Al-Hertani W, Park HJ, Upadhyay J. PMID: 40994431.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    4. Levacetylleucine (N-acetyl-l-leucine) for Niemann-Pick disease type C. Trends Pharmacol Sci. 2025 Apr; 46(4):386-387. van Gool R, Al-Hertani W, Bodamer O, Upadhyay J. PMID: 40055076.
      View in: PubMed   Mentions: 3     Fields:    
    5. Implications of the choroid plexus in Niemann-Pick disease Type C neuropathogenesis. Brain Behav Immun. 2025 Feb; 124:376-384. van Gool R, Cay M, Ren B, Brodeur K, Golden E, Goodlett B, Yang E, Reilly T, Hastings C, Berry-Kravis EM, Lee PY, Di Biase M, Cropley V, Pantelis C, Velakoulis D, Shinn AK, Al-Hertani W, Walterfang M, Upadhyay J. PMID: 39689839; PMCID: PMC11787871.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    6. Intravenous Idursulfase for the Treatment of Mucopolysaccharidosis Type II: A Systematic Literature Review. Int J Mol Sci. 2024 Aug 06; 25(16). Al-Hertani W, Pathak RR, Evuarherhe O, Carter G, Schaeffer-Koziol CR, Whiteman DAH, Wright E. PMID: 39201256; PMCID: PMC11354461.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    7. Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study. Mol Genet Metab. 2024 08; 142(4):108519. Guffon N, Burton BK, Ficicioglu C, Magner M, Gil-Campos M, Lopez-Rodriguez MA, Jayakar P, Lund AM, Tal G, Garcia-Ortiz JE, Stepien KM, Ellaway C, Al-Hertani W, Giugliani R, Cathey SS, Hennermann JB, Lampe C, McNutt M, Lagler FB, Scarpa M, Sutton VR, Muschol N. PMID: 39024860.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    8. Characterization of central manifestations in patients with Niemann-Pick disease type C. Genet Med. 2024 03; 26(3):101053. van Gool R, Golden E, Goodlett B, Zhang F, Vogel AP, Tourville JA, Yao K, Cay M, Tiwari S, Yang E, Zekelman LR, Todd N, O'Donnell LJ, Ren B, Bodamer OA, Al-Hertani W, Upadhyay J. PMID: 38131307; PMCID: PMC11995604.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    9. Case report: Chronic pain in a pediatric patient with late-onset pompe disease. Front Pain Res (Lausanne). 2023; 4:1244609. Cao A, van Gool R, Golden E, Goodlett B, Camelo C, Bujoreanu S, Al-Hertani W, Upadhyay J. PMID: 37841659; PMCID: PMC10575478.
      View in: PubMed   Mentions:
    10. A pilot investigation of muscle integrity in patients with ADSSL1 myopathy using electrical impedance myography. Muscle Nerve. 2023 Nov; 68(5):775-780. Farid AR, Golden E, Hu A, Robicheau S, Rutkove S, Al-Hertani W, Upadhyay J. PMID: 37682022.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    11. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. 2023 08 01; 146(8):3273-3288. Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D, Houlden H, Maroofian R. PMID: 36757831; PMCID: PMC10393417.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    12. The experience of living with Niemann-Pick type C: a patient and caregiver perspective. Orphanet J Rare Dis. 2023 05 20; 18(1):120. Golden E, van Gool R, Cay M, Goodlett B, Cao A, Al-Hertani W, Upadhyay J. PMID: 37210540; PMCID: PMC10200045.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    13. Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels. Orphanet J Rare Dis. 2023 Mar 13; 18(1):54. Shelkowitz E, Saneto RP, Al-Hertani W, Lubout CMA, Stence NV, Brown MS, Long P, Walleigh D, Nelson JA, Perez FE, Shaw DWW, Michl EJ, Van Hove JLK. PMID: 36915141; PMCID: PMC10012511.
      View in: PubMed   Mentions:    Fields:    
    14. Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels. Orphanet J Rare Dis. 2022 12 05; 17(1):423. Shelkowitz E, Saneto RP, Al-Hertani W, Lubout CMA, Stence NV, Brown MS, Long P, Walleigh D, Nelson JA, Perez FE, Shaw DWW, Michl EJ, Van Hove JLK. PMID: 36471344; PMCID: PMC9720968.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    15. 3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method. J Inherit Metab Dis. 2022 05; 45(3):445-455. Sasarman F, Ferdinandusse S, Sinasac DS, Fung E, Sparkes R, Reeves M, Rombough C, Sass JO, Voit R, Ruiter JPN, Koster J, Waterham HR, Pasquini E, Donati MA, Marquardt T, Wanders RJA, Al-Hertani W. PMID: 35174513.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    16. Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus. Mol Genet Metab. 2022 02; 135(2):154-162. Kishnani PS, Al-Hertani W, Balwani M, Göker-Alpan Ö, Lau HA, Wasserstein M, Weinreb NJ, Grabowski G. PMID: 34972655.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    17. Targeting neurological abnormalities in lysosomal storage diseases. Trends Pharmacol Sci. 2022 06; 43(6):495-509. van Gool R, Tucker-Bartley A, Yang E, Todd N, Guenther F, Goodlett B, Al-Hertani W, Bodamer OA, Upadhyay J. PMID: 34844772.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    18. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. Neurol Genet. 2021 Dec; 7(6):e613. Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, Anderson M, Spadafore D, Hunt D, Møller RS, Rubboli G, PURA study group. PMID: 34790866; PMCID: PMC8592566.
      View in: PubMed   Mentions: 23  
    19. Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey. Patient. 2022 03; 15(2):171-185. Chow AJ, Pugliese M, Tessier LA, Chakraborty P, Iverson R, Coyle D, Kronick JB, Wilson K, Hayeems R, Al-Hertani W, Inbar-Feigenberg M, Jain-Ghai S, Laberge AM, Little J, Mitchell JJ, Prasad C, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Trakadis Y, Walia JS, Wilson BJ, Potter BK. PMID: 34282509; PMCID: PMC8289623.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    20. Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data. Am J Hematol. 2021 05 01; 96(5):545-551. Istaiti M, Revel-Vilk S, Becker-Cohen M, Dinur T, Ramaswami U, Castillo-Garcia D, Ceron-Rodriguez M, Chan A, Rodic P, Tincheva RS, Al-Hertani W, Lee BH, Yang CF, Kiec-Wilk B, Fiumara A, Rubio B, Zimran A. PMID: 33606887.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    21. Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians. Can J Neurol Sci. 2019 11; 46(6):717-726. Paik K, Lines MA, Chakraborty P, Khangura SD, Latocki M, Al-Hertani W, Brunel-Guitton C, Khan A, Penny B, Rockman-Greenberg C, Rupar CA, Sondheimer N, Tarnopolsky M, Tingley K, Coyle D, Dyack S, Feigenbaum A, Geraghty MT, Gillis J, van Karnebeek CDM, Kronick JB, Little J, Potter M, Siriwardena K, Sparkes R, Turner LA, Wilson K, Buhas D, Potter BK, Canadian Inherited Metabolic Diseases Research Network. PMID: 31387656.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    22. Transiently elevated plasma methionine, S-adenosylmethionine and S-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation. JIMD Rep. 2019 Sep; 49(1):21-29. Chang CA, Wei XC, Martin SR, Sinasac DS, Al-Hertani W. PMID: 31497478; PMCID: PMC6718116.
      View in: PubMed   Mentions: 12  
    23. Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum. Mol Genet Metab Rep. 2019 Sep; 20:100483. Chard M, Appendino JP, Bello-Espinosa LE, Curtis C, Rho JM, Wei XC, Al-Hertani W. PMID: 31293896; PMCID: PMC6595096.
      View in: PubMed   Mentions: 6  
    24. D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene. Mol Genet Metab Rep. 2019 Sep; 20:100482. Phillips E, Sasarman F, Sinasac DS, Al-Hertani W. PMID: 31431883; PMCID: PMC6580329.
      View in: PubMed   Mentions: 3  
    25. Infantile Presentation of Leber Hereditary Optic Neuropathy "Plus" Disease. J Neuroophthalmol. 2019 06; 39(2):249-252. Zakrzewski H, Modabber M, Wilson N, Al-Hertani W, Toffoli D. PMID: 30829945.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    26. Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease. Mol Genet Metab Rep. 2019 Sep; 20:100476. Charkhand B, Scantlebury MH, Narita A, Zimran A, Al-Hertani W. PMID: 31467847; PMCID: PMC6713848.
      View in: PubMed   Mentions: 18  
    27. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. Am J Hum Genet. 2019 05 02; 104(5):815-834. Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, Wentzensen IM, Crunk A, Nicholls RD, Herman KC, Deignan JL, Al-Hertani W, Efthymiou S, Salpietro V, Miyake N, Makita Y, Matsumoto N, Østern R, Houge G, Hafström M, Fassi E, Houlden H, Klein Wassink-Ruiter JS, Nelson D, Goldstein A, Dabir T, van Gils J, Bourgeron T, Delorme R, Cooper GM, Martinez JE, Finnila CR, Carmant L, Lortie A, Oegema R, van Gassen K, Mehta SG, Huhle D, Abou Jamra R, Martin S, Brunner HG, Lindhout D, Au M, Graham JM, Coubes C, Turecki G, Gravel S, Mechawar N, Rossignol E, Michaud JL, Lessard J, Ernst C, Campeau PM. PMID: 31031012; PMCID: PMC6507050.
      View in: PubMed   Mentions: 45     Fields:    Translation:HumansCells
    28. Identification of a de novo case of COL5A1-related Ehlers-Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care. Clin Case Rep. 2018 Nov; 6(11):2256-2261. Wardeh A, Jackson T, Nelson B, Ernst C, Théroux JF, Al-Hertani W, Sobering AK, Maj MC. PMID: 30455932; PMCID: PMC6230631.
      View in: PubMed   Mentions: 3  
    29. Engagement of Canadian Patients with Rare Diseases and Their Families in the Lifecycle of Therapy: A Qualitative Study. Patient. 2018 06; 11(3):353-359. Young A, Menon D, Street J, Al-Hertani W, Stafinski T. PMID: 29299833.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    30. A checklist for managed access programmes for reimbursement co-designed by Canadian patients and caregivers. Health Expect. 2018 12; 21(6):973-980. Young A, Menon D, Street J, Al-Hertani W, Stafinski T. PMID: 29624799; PMCID: PMC6250858.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    31. Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review. Orphanet J Rare Dis. 2017 12 22; 12(1):188. Young A, Menon D, Street J, Al-Hertani W, Stafinski T. PMID: 29273068; PMCID: PMC5741909.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    32. ALG9-CDG: New clinical case and review of the literature. Mol Genet Metab Rep. 2017 Dec; 13:55-63. Davis K, Webster D, Smith C, Jackson S, Sinasac D, Seargeant L, Wei XC, Ferreira P, Midgley J, Foster Y, Li X, He M, Al-Hertani W. PMID: 28932688; PMCID: PMC5596360.
      View in: PubMed   Mentions: 14  
    33. Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment. JIMD Rep. 2018; 39:89-96. Waters PJ, Kitzler TM, Feigenbaum A, Geraghty MT, Al-Dirbashi O, Bherer P, Auray-Blais C, Gravel S, McIntosh N, Siriwardena K, Trakadis Y, Brunel-Guitton C, Al-Hertani W. PMID: 28766179; PMCID: PMC5953897.
      View in: PubMed   Mentions: 5  
    34. Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency. J Med Genet. 2017 04; 54(4):241-247. Yang H, Al-Hertani W, Cyr D, Laframboise R, Parizeault G, Wang SP, Rossignol F, Berthier MT, Giguère Y, Waters PJ, Mitchell GA, Québec NTBC Study Group. PMID: 27876694.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    35. Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. Orphanet J Rare Dis. 2016 Jan 25; 11:8. Lévesque S, Auray-Blais C, Gravel E, Boutin M, Dempsey-Nunez L, Jacques PE, Chenier S, Larue S, Rioux MF, Al-Hertani W, Nadeau A, Mathieu J, Maranda B, Désilets V, Waters PJ, Keutzer J, Austin S, Kishnani P. PMID: 26809617; PMCID: PMC4727295.
      View in: PubMed   Mentions: 28     Fields:    Translation:Humans
    36. Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):35-43. Coughlin CR, van Karnebeek CD, Al-Hertani W, Shuen AY, Jaggumantri S, Jack RM, Gaughan S, Burns C, Mirsky DM, Gallagher RC, Van Hove JL. PMID: 26026794.
      View in: PubMed   Mentions: 44     Fields:    Translation:Humans
    37. Severe craniosynostosis in an infant with deletion 22q11.2 syndrome. Am J Med Genet A. 2013 Jan; 161A(1):153-7. Al-Hertani W, Hastings VA, McGowan-Jordan J, Hurteau J, Graham GE. PMID: 23239640.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    38. Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism. Am J Med Genet A. 2012 Jun; 158A(6):1452-4. Al-Hertani W, McGowan-Jordan J, Allanson JE. PMID: 22585428.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    39. Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication. Am J Med Genet A. 2011 Apr; 155A(4):885-91. Argiropoulos B, Carter M, Brierley K, Hare H, Bouchard A, Al-Hertani W, Ryan SR, Reid J, Basik M, McGowan-Jordan J, Graham GE. PMID: 21416596.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    40. Human newborn polymorphonuclear neutrophils exhibit decreased levels of MyD88 and attenuated p38 phosphorylation in response to lipopolysaccharide. Clin Invest Med. 2007; 30(2):E44-53. Al-Hertani W, Yan SR, Byers DM, Bortolussi R. PMID: 17716541.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansCells
    41. The emergency department as an asthma surveillance tool at the community level: a decline in the burden of pediatric asthma in halifax, Canada. J Asthma. 2005 Oct; 42(8):679-82. Taylor BW, Maxwell D, Al-Hertani W. PMID: 16266960.
      View in: PubMed   Mentions:    Fields:    Translation:HumansPHPublic Health
    42. Role of MyD88 in diminished tumor necrosis factor alpha production by newborn mononuclear cells in response to lipopolysaccharide. Infect Immun. 2004 Mar; 72(3):1223-9. Yan SR, Qing G, Byers DM, Stadnyk AW, Al-Hertani W, Bortolussi R. PMID: 14977922; PMCID: PMC355999.
      View in: PubMed   Mentions: 60     Fields:    Translation:HumansCells
    43. Lipopolysaccharide-binding protein- and CD14-dependent activation of mitogen-activated protein kinase p38 by lipopolysaccharide in human neutrophils is associated with priming of respiratory burst. Infect Immun. 2002 Aug; 70(8):4068-74. Yan SR, Al-Hertani W, Byers D, Bortolussi R. PMID: 12117913; PMCID: PMC128158.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
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