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

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Bibliographische Detailangaben
Veröffentlicht in:	Journal of inherited metabolic disease 1998-06, Vol.21 (3), p.216-219
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - blood Abnormalities, Multiple - genetics Ataxia - genetics Biological and medical sciences Biomarkers Child, Preschool Citrulline - blood DNA, Mitochondrial Errors of metabolism Female Glycine - genetics Humans Infant Male Medical sciences Metabolic diseases Miscellaneous hereditary metabolic disorders Muscular Diseases - genetics Mutation Retinitis Pigmentosa - genetics Threonine - genetics
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