Ethylmalonic encephalopathy-report of two cases

Brain and Development

Volumn 28, Issue 5, 2006, Pages 329-331

  Heberle, Lada Cindro ^a   Al Tawari, Asma A ^a   Ramadan, Dina G ^a   Ibrahim, Jamila K ^a  

^a AL SABAH HOSPITAL   (Kuwait)

Author keywords

Encephalopathy; Mitochondrial; Organic aciduria; Petechiae

Indexed keywords

BICARBONATE; CARNITINE; CYTOCHROME C OXIDASE; PHENOBARBITAL; PYRIDOXINE; RIBOFLAVIN; THIAMINE; UBIDECARENONE;

ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; CYTOCHROME C OXIDASE DEFICIENCY; ETHE1 GENE; ETHYLMALONIC ENCEPHALOPATHY; EXON; GENE; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; INFANT; LABORATORY TEST; MALE; METABOLIC ACIDOSIS; METABOLIC ENCEPHALOPATHY; MOLECULAR GENETICS; NEUROCHEMISTRY; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY;

BRAIN; BRAIN DISEASES, METABOLIC; DNA MUTATIONAL ANALYSIS; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MALONATES; MITOCHONDRIAL PROTEINS; NUCLEOCYTOPLASMIC TRANSPORT PROTEINS;

EID: 33646513039     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2005.10.005     Document Type: Article

References (10)

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