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Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects.
JIMD Rep. 2023 Jun 16;64(4):274-281. doi: 10.1002/jmd2.12375. eCollection 2023 Jul.
JIMD Rep. 2023.
PMID: 37404677
Free PMC article.
SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.
Kamarus Jaman N, Rehsi P, Henderson RH, Löbel U, Mankad K, Grunewald S.
Kamarus Jaman N, et al. Among authors: rehsi p.
Front Genet. 2021 Dec 1;12:737094. doi: 10.3389/fgene.2021.737094. eCollection 2021.
Front Genet. 2021.
PMID: 34925443
Free PMC article.
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Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders.
Yeo M, Rehsi P, Dorman M, Grunewald S, Baruteau J, Chakrapani A, Footitt E, Prunty H, McSweeney M.
Yeo M, et al. Among authors: rehsi p.
JIMD Rep. 2022 Feb 2;63(2):137-145. doi: 10.1002/jmd2.12274. eCollection 2022 Mar.
JIMD Rep. 2022.
PMID: 35281661
Free PMC article.
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Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre.
Yeo M, Rehsi P, Dorman M, Grunewald S, Baruteau J, Chakrapani A, Footitt E, Prunty H, McSweeney M.
Yeo M, et al. Among authors: rehsi p.
JIMD Rep. 2023 Jul 23;64(5):317-326. doi: 10.1002/jmd2.12386. eCollection 2023 Sep.
JIMD Rep. 2023.
PMID: 37701329
Free PMC article.
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Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.
Chen W, Rehsi P, Thompson K, Yeo M, Stals K, He L, Schimmel P, Chrzanowska-Lightowlers ZMA, Wakeling E, Taylor RW, Kuhle B.
Chen W, et al. Among authors: rehsi p.
Mol Genet Metab. 2023 Nov;140(3):107657. doi: 10.1016/j.ymgme.2023.107657. Epub 2023 Jul 24.
Mol Genet Metab. 2023.
PMID: 37523899
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