Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?
Laboratoire Biochimie B, Hôpital Necker-Enfants Malades, Paris, France.
D
D
Rabier
C
C
Diry
A
A
Rotig
P
P
Rustin
B
B
Heron
J
J
Bardet
P
P
Parvy
G
G
Ponsot
C
C
Marsac
J M
JM
Saudubray
A
A
Munnich
P
P
Kamoun
D000015:Abnormalities, Multiple / Q000097:blood / Q000235:genetics*; D001259:Ataxia / Q000235:genetics; D015415:Biomarkers; D002675:Child, Preschool; D002956:Citrulline / Q000097:blood*; D004272:DNA, Mitochondrial; D005260:Female; D005998:Glycine / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009135:Muscular Diseases / Q000235:genetics; D009154:Mutation; D012174:Retinitis Pigmentosa / Q000235:genetics; D013912:Threonine / Q000235:genetics
D015415:Biomarkers; D004272:DNA, Mitochondrial; D002956:Citrulline; D013912:Threonine; D005998:Glycine