Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP

Pediatrics

Volumn 130, Issue 4, 2012, Pages

  Hitzert, Marrit M ^a   Bos, Arend F ^a   Bergman, Klasien A ^a   Veldman, Alex ^b   Schwarz, Guenter ^c   Santamaria Araujo, José Angel ^c   Heiner Fokkema, Rebecca ^d   Sival, Deborah A ^d   Lunsing, Roelineke J ^d   Arjune, Sita ^c   Kosterink, Jos G W ^d,e   Van Spronsen, Francjan J ^a  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

^b HUDSON INSTITUTE OF MEDICAL RESEARCH   (Australia)

^c UNIVERSITY OF COLOGNE   (Germany)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^e UNIVERSITY OF GRONINGEN   (Netherlands)

Author keywords

Cyclic pyranopterin monophosphate; General movements; Molybdenum cofactor deficiency; Sulfite oxidase

Indexed keywords

CYCLIC PYRANOPTERIN MONOPHOSPHATE; PTERIN DERIVATIVE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; DETERIORATION; EXPERIMENTAL THERAPY; FEMALE; GENE MUTATION; HUMAN; INBORN ERROR OF METABOLISM; INFANT; MOLYBDENUM COFACTOR TYPE A DEFICIENCY; MOVEMENT (PHYSIOLOGY); NERVE DEGENERATION; NERVOUS SYSTEM FUNCTION; NEUROLOGIC DISEASE; NEWBORN; OUTCOME ASSESSMENT; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RELIABILITY; SEIZURE;

DYSKINESIAS; ELECTROENCEPHALOGRAPHY; FEMALE; HUMANS; INFANT, NEWBORN; METAL METABOLISM, INBORN ERRORS; MOLYBDOFERREDOXIN; ORGANOPHOSPHORUS COMPOUNDS; PREGNANCY; PRENATAL DIAGNOSIS; PTERINS; SEIZURES; VIDEO RECORDING;

EID: 84867168772     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2011-3330     Document Type: Article

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