TY  - GEN
AU  - Méneret,Aurélie
AU  - Wiame,Elsa
AU  - Marelli,Cecilia
AU  - Lenglet,Timothée
AU  - Van Schaftingen,Emile
AU  - Sedel,Frédéric
TI  - A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy
SN  - 1538-3687
PY  - 2012///1119
KW  - Administration, Oral
KW  - Adult
KW  - Amino Acid Metabolism, Inborn Errors
KW  - blood
KW  - Charcot-Marie-Tooth Disease
KW  - DNA Mutational Analysis
KW  - Humans
KW  - Male
KW  - Metabolic Networks and Pathways
KW  - genetics
KW  - Phosphoglycerate Dehydrogenase
KW  - deficiency
KW  - Serine
KW  - administration & dosage
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1001/archneurol.2011.1526
ER  -