Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency

Journal of Inherited Metabolic Disease

Volumn 37, Issue 2, 2014, Pages 231-236

  Pasquali, Marzia ^a,b,c   Schwarz, Elisabeth ^c   Jensen, Maren ^c   Yuzyuk, Tatiana ^a,b,c   Debiase, Irene ^a,b,c   Randall, Harper ^d   Longo, Nicola ^a,b,c  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b ARUP LABORATORIES   (United States)

^c ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^d UTAH DEPARTMENT OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE; GUANIDINOACETATE METHYLTRANSFERASE; STABLE ISOTOPE; GLYCINE; GUANIDINOACETIC ACID;

ARTICLE; BLOOD ANALYSIS; DILUTION; DRIED BLOOD SPOT TESTING; ENZYME BLOOD LEVEL; ENZYME DEFICIENCY; EQUIPMENT; EXTRACTION; FALSE POSITIVE RESULT; FEMALE; GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY; HUMAN; INBORN ERROR OF METABOLISM; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; NEWBORN; NEWBORN SCREENING; STANDARD; TANDEM MASS SPECTROMETRY; ULTRA PERFORMANCE LIQUID CHROMATOGRAPHY; ANALOGS AND DERIVATIVES; BLOOD; BRAIN; DEFICIENCY; FEASIBILITY STUDY; LABORATORY DIAGNOSIS; LANGUAGE DEVELOPMENT DISORDERS; METABOLISM; MOVEMENT DISORDERS; PROCEDURES; RETROSPECTIVE STUDY;

BRAIN; CREATINE; DRIED BLOOD SPOT TESTING; FALSE POSITIVE REACTIONS; FEASIBILITY STUDIES; GLYCINE; GUANIDINOACETATE N-METHYLTRANSFERASE; HUMANS; INFANT, NEWBORN; LANGUAGE DEVELOPMENT DISORDERS; MOVEMENT DISORDERS; NEONATAL SCREENING; RETROSPECTIVE STUDIES;

EID: 84894476814     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-013-9662-7     Document Type: Article

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