Description of the mutations in 15 subjects with variant forms of maple syrup urine disease

Journal of Inherited Metabolic Disease

Volumn 30, Issue 6, 2007, Pages 903-909

  Flaschker, N ^a   Feyen, O ^a   Fend, S ^a   Simon, E ^a   Schadewaldt, P ^a   Wendel, U ^a  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; BRANCHED CHAIN ALPHA 2 KETO ACID DEHYDROGENASE; BRANCHED CHAIN BETA 2 KETO ACID DEHYDROGENASE; DIHYDROLIPOAMIDE BRANCHED CHAIN TRANSACYLASE; GENE PRODUCT; GENOMIC DNA; GLYCINE; LYSINE; PROLINE; SERINE; THREONINE; UNCLASSIFIED DRUG;

ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DIET THERAPY; DISEASE SEVERITY; DNA DETERMINATION; EARLY INTERVENTION; EXON; GENE DELETION; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; LEUKOCYTE; MAPLE SYRUP URINE DISEASE; MUTATIONAL ANALYSIS; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROGNOSIS; RNA ANALYSIS;

ALLELES; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; LEUKOCYTES; MALE; MAPLE SYRUP URINE DISEASE; MUTATION; PHENOTYPE; PROGNOSIS; VARIATION (GENETICS);

EID: 37249079738     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0579-x     Document Type: Article

References (13)

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