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

Archives of Neurology

Volumn 69, Issue 7, 2012, Pages 908-911

  Méneret, Aurélie ^a   Wiame, Elsa ^b   Marelli, Cecilia ^a,c   Lenglet, Timothée ^a   Van Schaftingen, Emile ^b   Sedel, Frédéric ^a  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b DE DUVE INSTITUTE   (Belgium)

^c GUI DE CHAULIAC HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; METHIONINE; PHOSPHOGLYCERATE DEHYDROGENASE; SERINE; TRYPTOPHAN; VALINE;

ADULT; AMINO ACID ANALYSIS; AMINO ACID CHROMATOGRAPHY; AMINO ACID DEFICIENCY; AMINO ACID SUBSTITUTION; AMINO ACID SYNTHESIS; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD LEVEL; CASE REPORT; CEREBELLAR ATAXIA; CEREBROSPINAL FLUID LEVEL; CHROMATOGRAPHY; CLINICAL EXAMINATION; CONGENITAL CATARACT; DRUG DOSE REDUCTION; DRUG MEGADOSE; ELECTROMYOGRAPHY; ENZYME DEFICIENCY; GENE; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HUMAN; MALE; NERVE CONDUCTION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PGDH GENE; PHENOTYPE; PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SENSORIMOTOR NEUROPATHY; SERINE DEFICIENCY; TREATMENT OUTCOME;

ADMINISTRATION, ORAL; ADULT; AMINO ACID METABOLISM, INBORN ERRORS; CHARCOT-MARIE-TOOTH DISEASE; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; METABOLIC NETWORKS AND PATHWAYS; PHOSPHOGLYCERATE DEHYDROGENASE; SERINE;

EID: 84863787887     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2011.1526     Document Type: Article

References (13)

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