Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency

Molecular Genetics and Metabolism

Volumn 109, Issue 2, 2013, Pages 215-217

  El Gharbawy, Areeg H ^a   Goldstein, Jennifer L ^a   Millington, David S ^a   Vaisnins, Amie E ^b   Schlune, Andrea ^c   Barshop, Bruce A ^d   Schulze, Andreas ^e   Koeberl, Dwight D ^a   Young, Sarah P ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b DUKE UNIVERSITY HEALTH SYSTEM   (United States)

^c UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF TORONTO   (Canada)

Author keywords

Creatine deficiency; GAMT deficiency; Newborn screening; Tandem mass spectrometry; Treatment

Indexed keywords

GUANIDINOACETATE METHYLTRANSFERASE; GUANIDINOACETIC ACID;

ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; DRIED BLOOD SPOT TESTING; ENZYME DEFICIENCY; FEMALE; FETUS ECHOGRAPHY; GENE MUTATION; GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY; HUMAN; MALE; NEWBORN; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL;

CASE-CONTROL STUDIES; CHILD, PRESCHOOL; CREATINE; DRIED BLOOD SPOT TESTING; EARLY DIAGNOSIS; FEMALE; GLYCINE; GUANIDINOACETATE N-METHYLTRANSFERASE; HUMANS; INFANT; INFANT, NEWBORN; LANGUAGE DEVELOPMENT DISORDERS; MALE; MOVEMENT DISORDERS; ORNITHINE; TREATMENT OUTCOME;

EID: 84878512035     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.03.003     Document Type: Article

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