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Walla Al-Hertani, M.D.

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Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. 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. Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians. Can J Neurol Sci. 2019 11; 46(6):717-726. PMID: 31387656.
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  2. Chang CA, Wei XC, Martin SR, Sinasac DS, Al-Hertani W. 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. PMID: 31497478.
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  3. Chard M, Appendino JP, Bello-Espinosa LE, Curtis C, Rho JM, Wei XC, Al-Hertani W. Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum. Mol Genet Metab Rep. 2019 Sep; 20:100483. PMID: 31293896.
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  4. Phillips E, Sasarman F, Sinasac DS, Al-Hertani W. 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. PMID: 31431883.
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  5. Zakrzewski H, Modabber M, Wilson N, Al-Hertani W, Toffoli D. Infantile Presentation of Leber Hereditary Optic Neuropathy "Plus" Disease. J Neuroophthalmol. 2019 06; 39(2):249-252. PMID: 30829945.
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  6. Charkhand B, Scantlebury MH, Narita A, Zimran A, Al-Hertani W. 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. PMID: 31467847.
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  7. 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. 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. PMID: 31031012.
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  8. Charkhand B, Liu N, Barrett KT, Al-Hertani W, Scantlebury MH. An Unusual Case of Infantile Spasms Due to a Pathogenic Variant in the MECP2 Gene. J Pediatr Neurol. 2019. View Publication.
  9. Wardeh A, Jackson T, Nelson B, Ernst C, Théroux JF, Al-Hertani W, Sobering AK, Maj MC. 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. PMID: 30455932.
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  10. Young A, Menon D, Street J, Al-Hertani W, Stafinski T. 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. PMID: 29299833.
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  11. Young A, Menon D, Street J, Al-Hertani W, Stafinski T. A checklist for managed access programmes for reimbursement co-designed by Canadian patients and caregivers. Health Expect. 2018 12; 21(6):973-980. PMID: 29624799.
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  12. Young A, Menon D, Street J, Al-Hertani W, Stafinski T. 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. PMID: 29273068.
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  13. 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. ALG9-CDG: New clinical case and review of the literature. Mol Genet Metab Rep. 2017 Dec; 13:55-63. PMID: 28932688.
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  14. 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. Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment. JIMD Rep. 2018; 39:89-96. PMID: 28766179.
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  15. Yang H, Al-Hertani W, Cyr D, Laframboise R, Parizeault G, Wang SP, Rossignol F, Berthier MT, Giguère Y, Waters PJ, Mitchell GA. Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency. J Med Genet. 2017 04; 54(4):241-247. PMID: 27876694.
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  16. 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. Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. Orphanet J Rare Dis. 2016 Jan 25; 11:8. PMID: 26809617.
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  17. Govshievich A, Shararah A, Aldekhayel S, Al-Hertani W, Williams B. Supernumerary Carpal Bones in Larsen Syndrome: A Review of the Literature and Case Study. Plastic Surgery Case Studies. 2015. View Publication.
  18. 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. 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. PMID: 26026794.
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  19. van Karnebeek CD, Stockler-Ipsiroglu S, Jaggumantri S, Assmann B, Baxter P, Buhas D, Bok LA, Cheng B, Coughlin CR, Das AM, Giezen A, Al-Hertani W, Ho G, Meyer U, Mills P, Plecko B, Struys E, Ueda K, Albersen M, Verhoeven N, Gospe SM, Gallagher RC, Van Hove JK, Hartmann H. Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations. JIMD Rep. 2014; 15:1-11. PMID: 24748525.
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  20. Al-Hertani W, Hastings VA, McGowan-Jordan J, Hurteau J, Graham GE. Severe craniosynostosis in an infant with deletion 22q11.2 syndrome. Am J Med Genet A. 2013 Jan; 161A(1):153-7. PMID: 23239640.
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  21. Al-Hertani W, McGowan-Jordan J, Allanson JE. Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism. Am J Med Genet A. 2012 Jun; 158A(6):1452-4. PMID: 22585428.
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  22. Argiropoulos B, Carter M, Brierley K, Hare H, Bouchard A, Al-Hertani W, Ryan SR, Reid J, Basik M, McGowan-Jordan J, Graham GE. 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. PMID: 21416596.
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  23. Al-Hertani W, Yan SR, Byers DM, Bortolussi R. 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. PMID: 17716541.
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  24. Taylor BW, Maxwell D, Al-Hertani W. 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. PMID: 16266960.
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  25. Yan SR, Qing G, Byers DM, Stadnyk AW, Al-Hertani W, Bortolussi R. 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. PMID: 14977922.
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  26. Yan SR, Al-Hertani W, Byers D, Bortolussi R. 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. PMID: 12117913.
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  27. Al Hertani W, Waddell JP, Anderson GI. The effect of partial vs. full hydroxyapatite coating on periprosthetic bone quality around the canine madreporic femoral stem. J Biomed Mater Res. 2000 Sep; 53(5):518-24. PMID: 10984700.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.