Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency

Molecular Genetics and Metabolism

Volumn 108, Issue 4, 2013, Pages 263-266

  Del Rizzo, Monica ^a   Burlina, Alessandro P ^b   Sass, Jörn Oliver ^c,d   Beermann, Frauke ^d   Zanco, Chiara ^a   Cazzorla, Chiara ^a   Bordugo, Andrea ^a   Giordano, Laura ^a   Manara, Renzo ^e   Burlina, Alberto B ^a  

^a UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^b St Bassiano Hospital   (Italy)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d UNIVERSITY OF FREIBURG   (Germany)

^e UNIVERSITY OF SALERNO   (Italy)

Author keywords

Homocysteine; Isolated sulfite oxidase deficiency; S sulfocysteine; Stroke; Sulfite

Indexed keywords

AMINO ACID MIXTURE; CYSTEINE DERIVATIVE; CYSTINE; METHIONINE; PROTEIN; SOD ANAMIX INFANT; SULFITE OXIDASE; TAURINE; UNCLASSIFIED DRUG; XCYS MAXAMAID;

AMINO ACID BLOOD LEVEL; AREFLEXIA; ARTICLE; BRAIN ATROPHY; CASE REPORT; CEREBROVASCULAR ACCIDENT; CHILD; DIETARY INTAKE; DRUG DOSE INCREASE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FIBROBLAST; FOLLOW UP; GAZE PARALYSIS; GENE MUTATION; GENETIC SCREENING; GLOBUS PALLIDUS; HEMIPARESIS; HUMAN; INFANT; ISOLATED SULFITE OXIDASE DEFICIENCY; LIMIT OF DETECTION; LIMIT OF QUANTITATION; MENTAL DEVELOPMENT; METABOLIC STROKE; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PRIORITY JOURNAL; PROTEIN RESTRICTION; PSYCHOMOTOR RETARDATION; VOCALIZATION;

AMINO ACID METABOLISM, INBORN ERRORS; BRAIN; BRAIN DISEASES, METABOLIC, INBORN; FEMALE; HUMANS; INFANT; STROKE; SULFITE OXIDASE;

EID: 84875255525     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.01.011     Document Type: Article

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