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Neurological disorders / Serine / Glycine / Charcot–Marie–Tooth disease / Peripheral neuropathy / Polyneuropathy / Phosphoserine phosphatase / Glucogenic amino acids / Proteinogenic amino acids / Chemistry


OBSERVATION A Serine Synthesis Defect Presenting With a Charcot-Marie-Tooth–Like Polyneuropathy Aure´lie Me´neret, MD; Elsa Wiame, PhD; Cecilia Marelli, MD; Timothe´e Lenglet, MD; Emile Van Schaftingen, MD, PhD; Fr
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City

Geneva / Masstricht / Low / Paris / Montpellier / Lyon / Brussels / /

Country

Switzerland / Netherlands / Belgium / France / /

Currency

pence / /

/

Facility

Gui de Chauliac Hospital / Pitie´-Salpeˆtrière Hospital / Duve Institute / G Hospital / /

IndustryTerm

magnetic resonance imaging / /

MedicalCondition

asymptomatic multidirectional nystagmus / microcephaly / Prednisoneresponsive hereditary motor / axonal polyneuropathy / absence seizures / congenital cataract / novel disorder / intractable seizures / seizures / intractable epilepsy / mild mental retardation / deficiency disorder / serine deficiency / peripheral neuropathy / polyneuropathy / spastic tetraparesis / severe axonal sensorimotor polyneuropathy compatible / disorder / hypogonadism / congenital cataracts / MS / axonal polyneuropathies / severe encephalopathy / prominent chronic polyneuropathy / pyruvate dehydrogenase deficiency / neurometabolic disorder / cataracts / cerebrotendinous xanthomatosis / Charcot-MarieTooth disease / cytotoxic hypercalcemia / Charcot-Marie-Tooth disease / cerebellar syndrome / chronic axonal sensorimotor polyneuropathy / chronic peripheral neuropathy / seizure / serine deficiency disorders / hereditary corticosteroidresponsive form / slight cerebellar ataxia / dehydrogenase deficiency / PGDH deficiency / inborn errors of metabolism / deficiency / ichthyosis / chronic neurogenic pattern / Phosphoserine aminotransferase deficiency / /

Organization

Duve Institute / Universite´ C Louvain / Universite´ Catholique de Louvain / Department of Neurology / Medical Research Council / Pitie´-Salpeˆtrière Hospital / American Medical Association / Society for the Study of Inborn Errors of Metabolism / /

Person

Arch Neurol / Arch Dis / Van Schaftin / Drs Wiame / Mayo Clin Proc / Mo Glucose / Elsa Wiame / Emile Van Schaftingen / Sedel / Lenglet / Cecilia Marelli / Van Maldergem / /

Position

Author / /

Product

Glycine / /

ProgrammingLanguage

L / J / /

ProvinceOrState

Pennsylvania / /

Technology

magnetic resonance imaging / spectroscopy / Gui / /

URL

WWW.ARCHNEUROL.COM / http /

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