Maple syrup urine disease: Further evidence that newborn screening may fail to identify variant forms

Molecular Genetics and Metabolism

Volumn 100, Issue 2, 2010, Pages 136-142

  Puckett, R L ^a   Lorey, F ^b   Rinaldo, P ^c   Lipson, M H ^d   Matern, D ^c   Sowa, M E ^a   Levine, S ^b   Chang, R ^a   Wang, R Y ^a   Abdenur, J E ^a  

^a CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^b Genetic Disease Screening Program   (United States)

^c Mayo Clinic   (United States)

^d Division of Medical Genetics   (United States)

Author keywords

Alloisoleucine; Branched chain keto acid dehydrogenase; Branched chain amino acids; Maple syrup urine disease; Newborn screening

Indexed keywords

2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE); 2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE) E1BETA SUBUNIT; 2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE) E2 SUBUNIT; ALANINE; ALLOISOLEUCINE; LEUCINE; UNCLASSIFIED DRUG;

AMINO ACID BLOOD LEVEL; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE CLASSIFICATION; EARLY DIAGNOSIS; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; MALE; MAPLE SYRUP URINE DISEASE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN SCREENING; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN INTAKE; PROTEIN RESTRICTION; SENSITIVITY AND SPECIFICITY; SIBLING; TANDEM MASS SPECTROMETRY;

AMINO ACIDS, BRANCHED-CHAIN; CHILD; CHILD, PRESCHOOL; DIET, PROTEIN-RESTRICTED; HUMANS; INFANT, NEWBORN; ISOLEUCINE; LEUCINE; MALE; MAPLE SYRUP URINE DISEASE; NEONATAL SCREENING; TANDEM MASS SPECTROMETRY;

ACER;

EID: 77952090276     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.11.010     Document Type: Article

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