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Journal of Inherited Metabolic Disease|August 27, 2013
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patientsMarisa I S Mendes, Henrique G Colaço, Desirée E C Smith, et al.
Nucleic Acids Research|November 22, 2024
Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MSMarisa I Mendes, Nicole I Wolf, Joëlle Rudinger-Thirion, et al.
Nucleic Acids Research|December 10, 2024
Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivationGautam Kok, Imre F Schene, Eveline F Ilcken, et al.
Molecular Genetics and Metabolism|May 14, 2020
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiencyAna Pop, Desirée E C Smith, Trevor Kirby, et al.
Human Mutation|September 27, 2021
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during feverJean-Marie Ravel, Natacha Dreumont, Pauline Mosca, et al.
Clinical Genetics|February 18, 2021
FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!Luise A Schuch, Maria Forstner, Christina K Rapp, et al.
American Journal of Human Genetics|February 12, 2011
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiencySiddharth Banka, Henk J Blom, John Walter, et al.
American Journal of Human Genetics|August 3, 2019
Bi-allelic TARS Mutations Are Associated with Brittle Hair PhenotypeArjan F Theil, Elena Botta, Anja Raams, et al.
Human Molecular Genetics|April 28, 2021
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophyElena Botta, Arjan F Theil, Anja Raams, et al.
American Journal of Human Genetics|March 27, 2018
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating LeukodystrophyMarisa I Mendes, Mariana Gutierrez Salazar, Kether Guerrero, et al.
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