A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy.

Méneret, Aurélie; Wiame, Elsa; Marelli, Cecilia; Lenglet, Timothée; Van Schaftingen, Emile; Sedel, Frédéric

Méneret, Aurélie; Wiame, Elsa; Marelli, Cecilia; Lenglet, Timothée; Van Schaftingen, Emile; Sedel, Frédéric.

Affiliation

Méneret A; Department of Neurology, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, France.

Arch Neurol ; 69(7): 908-11, 2012 Jul.

Article in En | MEDLINE | ID: mdl-22393170

Subject(s)

Amino Acid Metabolism, Inborn Errors/complications; Charcot-Marie-Tooth Disease/complications; Phosphoglycerate Dehydrogenase/deficiency; Serine/administration & dosage; Administration, Oral; Adult; Amino Acid Metabolism, Inborn Errors/blood; Amino Acid Metabolism, Inborn Errors/cerebrospinal fluid; Charcot-Marie-Tooth Disease/blood; Charcot-Marie-Tooth Disease/cerebrospinal fluid; DNA Mutational Analysis; Humans; Male; Metabolic Networks and Pathways/genetics; Phosphoglycerate Dehydrogenase/genetics; Serine/blood; Serine/cerebrospinal fluid

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Collection: 01-internacional Database: MEDLINE Main subject: Serine / Charcot-Marie-Tooth Disease / Phosphoglycerate Dehydrogenase / Amino Acid Metabolism, Inborn Errors Limits: Adult / Humans / Male Language: En Journal: Arch Neurol Year: 2012 Document type: Article Affiliation country: France Country of publication: United States

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