3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.

Human mutation

Volumn 26, Issue 2, 2005, Pages 164-

  Dantas, Maria Fernanda ^a   Suormala, Terttu ^a   Randolph, Ann ^a   Coelho, David ^a   Fowler, Brian ^a   Valle, David ^a   Baumgartner, Matthias R ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; LIGASE; METHYLCROTONOYL COA CARBOXYLASE; METHYLCROTONOYL-COA CARBOXYLASE;

ALLELE; ARTICLE; CHEMISTRY; DIAGNOSTIC PROCEDURE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; GENETICS; GENOTYPE; HUMAN; METHODOLOGY; MUTATION; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PHENOTYPE;

ALLELES; AMINO ACID METABOLISM, INBORN ERRORS; BIOTIN; CARBON-CARBON LIGASES; DNA MUTATIONAL ANALYSIS; GENOTYPE; HUMANS; INFANT, NEWBORN; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; NEONATAL SCREENING; OPEN READING FRAMES; PHENOTYPE;

EID: 31644442104     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9352     Document Type: Article

References (0)