Maternal glutaric acidemia, type I identified by newborn screening

Molecular Genetics and Metabolism

Volumn 94, Issue 1, 2008, Pages 132-134

  Crombez, Eric A ^a   Cederbaum, Stephen D ^a,b   Spector, Elaine ^c   Chan, Erica ^a   Salazar, Denise ^d   Neidich, Julie ^d   Goodman, Stephen ^c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c Children's Hospital Colorado   (United States)

^d QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

Author keywords

GA I; Glutaric acidemia; Maternal glutaric acidemia; Newborn screening; Type I

Indexed keywords

ACYLCARNITINE; CARBOXYLIC ACID; CARNITINE; GLUTARIC ACID; GLUTARIC ACID DEHYDROGENASE; UNCLASSIFIED DRUG;

ACIDEMIA; ARTICLE; CASE REPORT; EXON; FEMALE; FIBROBLAST; GENE MUTATION; GENETIC SCREENING; GLUTARIC ACIDEMIA TYPE 1; HEMIZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; MATERNAL DISEASE; METABOLITE; MOTHER; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN TRANSPORT;

AMINO ACID METABOLISM, INBORN ERRORS; CARNITINE; FEMALE; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HUMANS; INFANT, NEWBORN; MUTATION; NEONATAL SCREENING;

EID: 41949109641     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.01.005     Document Type: Article

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