Newborn screening for biotinidase deficiency in Brazil: Biochemical and molecular characterizations

Brazilian Journal of Medical and Biological Research

Volumn 37, Issue 3, 2004, Pages 295-299

  Neto, E C ^a,b   Schulte, J ^a   Rubim, R ^a   Lewis, E ^b   DeMari, J ^b   Castilhos, C ^b   Brites, A ^b   Glugliani, R ^c   Jensen, K P ^d   Wolf, B ^d,e  

^a Nobel RIE Laboratory   (Brazil)

^b Centro de Triagem Neonatal   (Brazil)

^c HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^d UNIVERSITY OF CONNECTICUT SCHOOL OF MEDICINE   (United States)

^e Farmington   (United States)

Author keywords

Biotinidase; Biotinidase deficiency; Enzyme assay; Mutations; Newborn screening

Indexed keywords

BIOTIN; BIOTINIDASE; DNA;

ANALYTICAL ERROR; ARTICLE; BIOTINIDASE DEFICIENCY; BRAZIL; CHEMICAL ANALYSIS; CLINICAL FEATURE; CLINICAL LABORATORY; CONTROL; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; FAMILIAL DISEASE; GENETIC ANALYSIS; GENOTYPE; HEALTH PROGRAM; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; MATERIALS HANDLING; METABOLIC DISORDER; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; NEWBORN; NEWBORN SCREENING; PAPER; SKIN DISEASE; STORAGE; SYMPTOMATOLOGY;

EID: 11144356869     PISSN: 0100879X     EISSN: 1414431X     Source Type: Journal    
DOI: 10.1590/s0100-879x2004000300001     Document Type: Article

References (12)

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