Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in Samoan neonates

Journal of Pediatrics

Volumn 147, Issue 1, 2005, Pages 115-118

  Wilson, Callum J ^a   Myer, Michael ^a   Darlow, Brian A ^a   Stanley, Thorsten ^a   Thomson, Glen ^a   Baumgartner, E Regula ^a   Kirby, Denise M ^a   Thorburn, David R ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; CARNITINE; HOLOCARBOXYLASE SYNTHETASE; SYNTHETASE; UNCLASSIFIED DRUG;

ARTICLE; BIOTINYLATION; CHILD; CHILDHOOD MORTALITY; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; DISORDERS OF CARBOHYDRATE METABOLISM; DRUG EFFICACY; DRUG MEGADOSE; FEMALE; HUMAN; INFANT; INTRAUTERINE GROWTH RETARDATION; LACTIC ACIDOSIS; MALE; NEWBORN; PRENATAL DEVELOPMENT; PRENATAL PERIOD; PRIORITY JOURNAL; SAMOA; SUBEPENDYMOMA; TREATMENT OUTCOME;

AUSTRALIA; BIOTIN; CENTRAL NERVOUS SYSTEM CYSTS; DRUG RESISTANCE; EPENDYMA; FATAL OUTCOME; FETAL GROWTH RETARDATION; HOLOCARBOXYLASE SYNTHETASE DEFICIENCY; HUMANS; INFANT, NEWBORN; NEW ZEALAND; SAMOA;

EID: 22144447164     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2005.03.006     Document Type: Article

References (11)

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