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2019 1
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2024 2

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Page 1
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.
Posset R, Garbade SF, Gleich F, Scharre S, Okun JG, Gropman AL, Nagamani SCS, Druck AC, Epp F, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Posset R, et al. Genet Med. 2024 Apr;26(4):101039. doi: 10.1016/j.gim.2023.101039. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054409 Free article.
The future of newborn screening for lysosomal disorders.
Wasserstein MP, Orsini JJ, Goldenberg A, Caggana M, Levy PA, Breilyn M, Gelb MH. Wasserstein MP, et al. Among authors: breilyn m. Neurosci Lett. 2021 Aug 24;760:136080. doi: 10.1016/j.neulet.2021.136080. Epub 2021 Jun 22. Neurosci Lett. 2021. PMID: 34166724 Free PMC article.
Leukocytosis and Splenomegaly in a Neonate With NRAS Mutation.
Lucena MH, Balasundaram P, Carney M, Green E, Breilyn MS, Fuloria M. Lucena MH, et al. Among authors: breilyn ms. Clin Pediatr (Phila). 2024 May;63(4):451-455. doi: 10.1177/00099228231176341. Epub 2023 Jun 1. Clin Pediatr (Phila). 2024. PMID: 37264612 No abstract available.
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Marafi D, Fatih JM, Kaiyrzhanov R, Ferla MP, Gijavanekar C, Al-Maraghi A, Liu N, Sites E, Alsaif HS, Al-Owain M, Zakkariah M, El-Anany E, Guliyeva U, Guliyeva S, Gaba C, Haseeb A, Alhashem AM, Danish E, Karageorgou V, Beetz C, Subhi AA, Mullegama SV, Torti E, Sebastin M, Breilyn MS, Duberstein S, Abdel-Hamid MS, Mitani T, Du H, Rosenfeld JA, Jhangiani SN, Coban Akdemir Z, Gibbs RA, Taylor JC, Fakhro KA, Hunter JV, Pehlivan D, Zaki MS, Gleeson JG, Maroofian R, Houlden H, Posey JE, Sutton VR, Alkuraya FS, Elsea SH, Lupski JR. Marafi D, et al. Among authors: breilyn ms. Brain. 2022 Apr 29;145(3):909-924. doi: 10.1093/brain/awab369. Brain. 2022. PMID: 34605855 Free PMC article.
11 results