Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease

Molecular Genetics and Metabolism

Volumn 107, Issue 3, 2012, Pages 433-437

  Mercimek Mahmutoglu, S ^a   Sinclair, G ^b   van Dooren, S J M ^c   Kanhai, W ^c   Ashcraft, P ^d   Michel, O J ^c   Nelson, J ^b   Betsalel, O T ^c   Sweetman, L ^d   Jakobs, C ^c   Salomons, G S ^c  

^a UNIVERSITY OF TORONTO   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

GAA; GAMT deficiency; Newborn blood spots; Newborn screening; Treatment of GAMT deficiency

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; DISEASE CARRIER; DRIED BLOOD SPOT TESTING; FALSE POSITIVE RESULT; GENE DELETION; GENE INSERTION; GENE MUTATION; GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY; HETEROZYGOTE; HUMAN; METABOLIC DISORDER; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL;

ADULT; ALLELES; BASE SEQUENCE; CREATINE; DNA MUTATIONAL ANALYSIS; EARLY DIAGNOSIS; FEMALE; GENE FREQUENCY; GUANIDINOACETATE N-METHYLTRANSFERASE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; LANGUAGE DEVELOPMENT DISORDERS; MALE; MOLECULAR SEQUENCE DATA; MOVEMENT DISORDERS; MUTAGENESIS, INSERTIONAL; NEONATAL SCREENING; SEQUENCE DELETION;

EID: 84867896682     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.07.022     Document Type: Article

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