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Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.
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. Shelkowitz E, et al. Among authors: al hertani w. Orphanet J Rare Dis. 2023 Mar 13;18(1):54. doi: 10.1186/s13023-023-02646-0. Orphanet J Rare Dis. 2023. PMID: 36915141 Free PMC article. No abstract available.
Case report: Chronic pain in a pediatric patient with late-onset pompe disease.
Cao A, van Gool R, Golden E, Goodlett B, Camelo C, Bujoreanu S, Al-Hertani W, Upadhyay J. Cao A, et al. Among authors: al hertani w. Front Pain Res (Lausanne). 2023 Oct 6;4:1244609. doi: 10.3389/fpain.2023.1244609. eCollection 2023. Front Pain Res (Lausanne). 2023. PMID: 37841659 Free PMC article.
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
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-Fak… See abstract for full author list ➔ Saffari A, et al. Among authors: al hertani w. Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. Brain. 2023. PMID: 36757831 Free PMC article.
Characterization of central manifestations in patients with Niemann-Pick disease type C.
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. van Gool R, et al. Among authors: al hertani w. Genet Med. 2024 Mar;26(3):101053. doi: 10.1016/j.gim.2023.101053. Epub 2023 Dec 19. Genet Med. 2024. PMID: 38131307
3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method.
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. Sasarman F, et al. Among authors: al hertani w. J Inherit Metab Dis. 2022 May;45(3):445-455. doi: 10.1002/jimd.12486. Epub 2022 Mar 7. J Inherit Metab Dis. 2022. PMID: 35174513
Targeting neurological abnormalities in lysosomal storage diseases.
van Gool R, Tucker-Bartley A, Yang E, Todd N, Guenther F, Goodlett B, Al-Hertani W, Bodamer OA, Upadhyay J. van Gool R, et al. Among authors: al hertani w. Trends Pharmacol Sci. 2022 Jun;43(6):495-509. doi: 10.1016/j.tips.2021.11.005. Epub 2021 Nov 27. Trends Pharmacol Sci. 2022. PMID: 34844772 Review.
38 results