Biotinidase deficiency: The importance of adequate follow-up for an inconclusive newborn screening result

European Journal of Pediatrics

Volumn 164, Issue 5, 2005, Pages 298-301

  Hoffman, Trevor L ^a   Simon, Erin M ^a   Ficicioglu, Can ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

Biotin; Biotinidase deficiency; Magnetic resonance imaging; Newborn screening; Stridor

Indexed keywords

ADRENALIN; BICARBONATE; BIOTIN; BIOTINIDASE; GENOMIC DNA; STEROID;

ARTICLE; ATAXIA; BIOTINIDASE DEFICIENCY; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC ERROR; DNA SEQUENCE; ENZYME ACTIVITY; FOLLOW UP; GENE MUTATION; HEARING IMPAIRMENT; HOMOZYGOTE; HUMAN; HYPOCAPNIA; LACTIC ACIDOSIS; LETHARGY; MALE; MENTAL DEFICIENCY; METABOLIC PARAMETERS; MORBIDITY; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROLOGICAL COMPLICATION; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY DISTRESS; STRIDOR; TREATMENT OUTCOME; WHITE MATTER;

ACIDOSIS, LACTIC; ATAXIA; BIOTIN; BIOTINIDASE DEFICIENCY; BRAIN; CONTINUITY OF PATIENT CARE; HEARING LOSS, BILATERAL; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE HYPERTONIA; NEONATAL SCREENING; PAKISTAN; PENNSYLVANIA; RESPIRATORY SOUNDS; SPEECH DISORDERS;

EID: 18044365978     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-005-1629-8     Document Type: Article

References (13)

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