Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia

Brain and Development

Volumn 32, Issue 7, 2010, Pages 544-549

  Sass, Jörn Oliver ^a   Gunduz, Aysegul ^b   Araujo Rodrigues Funayama, Carolina ^c   Korkmaz, Baris ^b   Dantas Pinto, Kylvia Giselle ^c   Tuysuz, Beyhan ^b   Yanasse Dos Santos, Letícia ^c   Taskiran, Emine ^d   de Fátima Turcato, Marlene ^c   Lam, Ching Wan ^e   Reiss, Jochen ^f   Walter, Melanie ^a   Yalcinkaya, Cengiz ^b   Camelo Junior, José Simon ^c  

^a UNIVERSITY OF FREIBURG   (Germany)

^b ISTANBUL UNIVERSITY   (Turkey)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

^d Istanbul Education and Research Hospital ^*  (Turkey)

^e UNIVERSITY OF HONG KONG   (Hong Kong)

^f UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

Author keywords

Homocysteine; Hypoxanthine; Hypoxic ischemic injury; Molybdenum; Seizures; Sulfite; Sulfocysteine; Uric acid; Xanthine

Indexed keywords

ACICLOVIR; ALDEHYDE OXIDASE; ANTIBIOTIC AGENT; BACLOFEN; CARBAMAZEPINE; CLONAZEPAM; DIAZEPAM; ETIRACETAM; PHENOBARBITAL; PHENYTOIN; PRIMIDONE; SULFITE OXIDASE; TOPIRAMATE; VALPROIC ACID; VIGABATRIN; XANTHINE DEHYDROGENASE; COENZYME; METALLOPROTEIN; MOLYBDENUM COFACTOR; PTERIDINE DERIVATIVE;

ARTICLE; BRAIN ATROPHY; CASE REPORT; CHILD; DIFFERENTIAL DIAGNOSIS; ENCEPHALOMALACIA; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME SYNTHESIS; FEMALE; FIBROBLAST; GENE MUTATION; HERPES SIMPLEX ENCEPHALITIS; HUMAN; INFANT; INTRACTABLE EPILEPSY; LABORATORY DIAGNOSIS; MOLYBDENUM COFACTOR DEFICIENCY; NEUROLOGIC EXAMINATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PLEOCYTOSIS; PNEUMONIA; PRESCHOOL CHILD; SEIZURE; SULFITE OXIDASE DEFICIENCY; BRAZIL; COENZYME; COMPLICATION; DEFICIENCY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYMOLOGY; GENETICS; INFANT, NEWBORN, DISEASES; NUCLEOTIDE SEQUENCE; PATHOLOGY; SEIZURES; TURKEY;

AMINO ACID METABOLISM, INBORN ERRORS; BRAZIL; COENZYMES; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; ENCEPHALOMALACIA; FEMALE; HUMANS; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; METALLOPROTEINS; PTERIDINES; SEIZURES; SULFITE OXIDASE; TURKEY;

EID: 77954384973     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2009.09.005     Document Type: Article

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