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Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?
Published in:
Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 216, doi. 10.1023/A:1005391300203
By:
- Rabier, D.;
- Diry, C.;
- Rotig, A.;
- Rustin, P.;
- Heron, B.;
- Bardet, J.;
- Parvy, P.;
- Ponsot, G.;
- Marsac, C.;
- Saudubray, J.;
- Munnich, A.;
- Kamoun, P.
Publication type:
Article
GESTATIONAL AGE-RELATED REFERENCE VALUES FOR AMNIOTIC FLUID AMINO ACIDS: A USEFUL TOOL FOR PRENATAL DIAGNOSIS OF AMINOACIDOPATHIES.
Published in:
Prenatal Diagnosis, 1996, v. 16, n. 7, p. 623, doi. 10.1002/(SICI)1097-0223(199607)16:7<623::AID-PD921>3.0.CO;2-5
By:
- RABIER, D.;
- CHADEFAUX-VEKEMANS, B.;
- OURY, J. F.;
- AUPETIT, J.;
- BARDET, J.;
- GASQUET, M.;
- MERHAND, E.;
- PARVY, P.;
- KAMOUN, P.
Publication type:
Article
Glycine/serine ratio and the prenatal diagnosis of non-ketotic hyperglycinaemia.
Published in:
1990
By:
- Parvy, P.;
- Rabier, D.;
- Boue, J.;
- Saudubray, J. M.;
- Kamoun, P.
Publication type:
journal article
Citrulline in amniotic fluid and the prenatal diagnosis of citrullinemia.
Published in:
1983
By:
- Kamoun, P.;
- Parvy, Ph.;
- Dinh, D. Pham;
- Boué, J.;
- Cathelineau, L.;
- Parvy, P;
- Pham Dinh, D;
- Boué, J
Publication type:
journal article