Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?
Rabier
D
D
Laboratoire Biochimie B, Hôpital Necker-Enfants Malades, Paris, France.
Diry
C
C
Rotig
A
A
Rustin
P
P
Heron
B
B
Bardet
J
J
Parvy
P
P
Ponsot
G
G
Marsac
C
C
Saudubray
J M
JM
Munnich
A
A
Kamoun
P
P
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