Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening

Autor: Peretz, Ryan H., Ah Mew, Nicholas, Vernon, Hilary J., Ganetzky, Rebecca D.

Publikováno v: In Molecular Genetics and Metabolism September-October 2021 134(1-2):37-42

The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem.

Autor: Forsyth, RaeLynn, Peretz, Ryan H., Dempsey, Angela, Britton, Jacquelyn, Kratz, Lisa, Hamosh, Ada, Vernon, Hilary, Batshaw, Mark L., Valle, David

Publikováno v: Journal of Inherited Metabolic Disease Reports; May2023, Vol. 64 Issue 3, p233-237, 5p

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The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem.

Autor: Forsyth R; Department of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland USA., Peretz RH; National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA., Dempsey A; Department of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland USA., Britton J; Department of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland USA., Kratz L; Biochemical Genetics Laboratory Kennedy Krieger Institute Baltimore Maryland USA., Hamosh A; Department of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland USA., Vernon H; Department of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland USA., Batshaw ML; Center for Genetic Medicine Research Children's National Hospital Washington DC USA., Valle D; Department of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland USA.

Publikováno v: JIMD reports [JIMD Rep] 2023 Jan 29; Vol. 64 (3), pp. 233-237. Date of Electronic Publication: 2023 Jan 29 (Print Publication: 2023).