The adolescent and adult form of cobalamin C disease: Clinical and molecular spectrum

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 79, Issue 6, 2008, Pages 725-728

  Thauvin Robinet, C ^a   Roze, E ^b,c   Couvreur, G ^d   Horellou, M H ^e   Sedel, F ^f   Grabli, D ^f   Bruneteau, G ^f   Tonneti, C ^g   Masurel Paulet, A ^a   Perennou, D ^h   Moreau, T ^d   Giroud, M ^d   Ogier De Baulny, H ⁱ   Giraudier, S ^g   Faivre, L ^a  

^a Medical University of Dijon   (France)

^b HÔPITAL SAINT ANTOINE   (France)

^c CNRS   (France)

^d HÔPITAL DU BOCAGE   (France)

^e HÔTEL DIEU   (France)

^f PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^g HENRI MONDOR HOSPITAL   (France)

^h DIJON UNIVERSITY HOSPITAL   (France)

ⁱ ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIVITAMIN K; BETAINE; CARNITINE; FOLINIC ACID; HOMOCYSTEINE; HYDROXOCOBALAMIN; METHIONINE; CARRIER PROTEIN; METHYLMALONIC ACID; MMACHC PROTEIN, HUMAN;

ADULT; APRAXIA; ARTICLE; ATAXIA; CLINICAL ARTICLE; CLINICAL FEATURE; COBALAMIN C DISEASE; DEATH; DISEASE COURSE; DRUG HYPERSENSITIVITY; DYSARTHRIA; DYSMETRIA; DYSTONIA; FEMALE; FOLLOW UP; GENE MUTATION; GRAND MAL SEIZURE; HETEROZYGOTE; HUMAN; HYPERTENSION; IMAGING; INBORN ERROR OF METABOLISM; LEUKOENCEPHALOPATHY; LOGORRHEA; LUNG EMBOLISM; MALE; MENTAL DISEASE; MISSENSE MUTATION; MYOCLONUS; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PAIN; PRIORITY JOURNAL; QUADRIPLEGIA; RADIODENSITOMETRY; SPASTICITY; SPINAL CORD DISEASE; THROMBOEMBOLISM; TREATMENT OUTCOME; VISUAL HALLUCINATION; WHITE MATTER; ADOLESCENT; BRAIN; BRAIN VENTRICLE; CASE REPORT; CHROMOSOME ABERRATION; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DRUG EFFECT; GENE DUPLICATION; GENETICS; HETEROZYGOTE DETECTION; HOMOCYSTINURIA; INTRAMUSCULAR DRUG ADMINISTRATION; INTRAVENOUS DRUG ADMINISTRATION; METABOLIC ENCEPHALOPATHY; NEUROLOGIC EXAMINATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; RECESSIVE GENE; SPINAL CORD; URINE;

ADOLESCENT; ADULT; AMINO ACID METABOLISM, INBORN ERRORS; BRAIN; BRAIN DISEASES, METABOLIC, INBORN; CARRIER PROTEINS; CEREBRAL VENTRICLES; CHROMOSOME ABERRATIONS; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; GENE DUPLICATION; GENES, RECESSIVE; HETEROZYGOTE DETECTION; HOMOCYSTINURIA; HUMANS; HYDROXOCOBALAMIN; INFUSIONS, INTRAVENOUS; INJECTIONS, INTRAMUSCULAR; MAGNETIC RESONANCE IMAGING; MALE; METHYLMALONIC ACID; MUTATION, MISSENSE; NEUROLOGIC EXAMINATION; SPINAL CORD;

EID: 44449095103     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2007.133025     Document Type: Article

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