Biotinidase deficiency: "If you have to have an inherited metabolic disease, this is the one to have"

Genetics in Medicine

Volumn 14, Issue 6, 2012, Pages 565-575

  Wolf, Barry ^a,b  

^a HENRY FORD HOSPITAL   (United States)

^b WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

biotin; biotinidase; biotinidase deficiency; carboxylase deficiency; mutation analysis; newborn screening

Indexed keywords

BIOTIN; BIOTINIDASE; CARNITINE;

ALOPECIA; APNEA; ATAXIA; AUDITORY SYSTEM EXAMINATION; BIOTINIDASE DEFICIENCY; CANDIDIASIS; CLINICAL FEATURE; CONJUNCTIVITIS; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; ECZEMA; EGG; ENZYME ACTIVITY; EYE EXAMINATION; FOCAL EPILEPSY; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GRAND MAL SEIZURE; HETEROZYGOTE DETECTION; HUMAN; HYPERVENTILATION; INCIDENCE; INFANTILE SPASM; MOLECULAR GENETICS; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; MYOCLONUS SEIZURE; NEWBORN SCREENING; ONSET AGE; OPTIC NERVE ATROPHY; PERCEPTION DEAFNESS; PERIODIC MEDICAL EXAMINATION; PHYSICAL EXAMINATION; PRACTICE GUIDELINE; PRENATAL SCREENING; RAW FOOD; REVIEW; STRIDOR; VISUAL DISORDER;

ADULT; BIOTIN; BIOTINIDASE; BIOTINIDASE DEFICIENCY; CHILD; CHILD, PRESCHOOL; DIET THERAPY; HUMANS; INFANT, NEWBORN; MUTATION; NEONATAL SCREENING;

EID: 84861913109     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2011.6     Document Type: Review

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