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Article

Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?

Journal of inherited metabolic disease - 1 Jun 1998

Rabier D, Diry C, Rotig A, Rustin P, Heron B, Bardet J, Parvy P, Ponsot G, Marsac C, Saudubray J M, Munnich A, Kamoun P

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 9686360
DOI: 10.1023/a:1005391300203

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Related research

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Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?PMID 9686360Read ↗

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Acute periaqueductal syndrome associated with the G11778A mitochondrial DNA mutation.Semantic proximity Read ↗

The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia.Semantic proximity Read ↗

Mitochondrial disease: maintenance of mitochondrial genome and molecular diagnostics.Semantic proximity Read ↗

[NARP syndrome--a less known mitochondrial disease].Semantic proximity Read ↗

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