Congenital disorder of glycosylation type Ia: A non-progressive encephalopathy associated with multisystemic involvement

Arquivos de Neuro-Psiquiatria

Volumn 66, Issue 3 A, 2008, Pages 545-548

  Brum, Jaime Moritz ^a,c   Rizzo, Isabela Maria Pinto De Oliveira ^a   De Mello, Walquiria Domingues ^b   Speck Martins, Carlos Eduardo ^a  

^a SARAH NETWORK OF REHABILITATION HOSPITALS   (Brazil)

^b Rede SARAH de Hospitais de Reabilitação   (Brazil)

^c Laboratório de Genética Bioquímica   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

PHENOBARBITAL;

AMINOTRANSFERASE BLOOD LEVEL; ANAMNESIS; ARTICLE; BRAIN DISEASE; CASE REPORT; CLINICAL FEATURE; COGNITIVE DEFECT; COGNITIVE REHABILITATION; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; DISEASE ASSOCIATION; DRUG WITHDRAWAL; ELECTROCARDIOGRAPHY; FEMALE; HEPATOMEGALY; HUMAN; LABORATORY TEST; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OXYGEN THERAPY; PRESCHOOL CHILD; SEIZURE; SIDE EFFECT;

ATROPHY; BRAIN; BRAIN DISEASES; CHILD; CONGENITAL DISORDERS OF GLYCOSYLATION; ELECTROENCEPHALOGRAPHY; EVOKED POTENTIALS; FEMALE; GLYCOPROTEINS; GLYCOSYLATION; HUMANS; MAGNETIC RESONANCE IMAGING; PHOSPHOTRANSFERASES (PHOSPHOMUTASES);

EID: 52949105740     PISSN: 0004282X     EISSN: 16784227     Source Type: Journal    
DOI: 10.1590/S0004-282X2008000400021     Document Type: Article

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