Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency.
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The role of dietary creatine.Expanded newborn screening by mass spectrometry: New tests, future perspectives.Non-derivatized Assay for the Simultaneous Detection of Amino Acids, Acylcarnitines, Succinylacetone, Creatine, and Guanidinoacetic Acid in Dried Blood Spots by Tandem Mass SpectrometryGuanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis.Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.Integrated Multianalyte Second-Tier Testing for Newborn Screening for MSUD, IVA, and GAMT Deficiencies
P2860
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P2860
Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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name
Feasibility of newborn screeni ...... transferase (GAMT) deficiency.
@en
Feasibility of newborn screening for guanidinoacetate methyltransferase
@nl
type
label
Feasibility of newborn screeni ...... transferase (GAMT) deficiency.
@en
Feasibility of newborn screening for guanidinoacetate methyltransferase
@nl
prefLabel
Feasibility of newborn screeni ...... transferase (GAMT) deficiency.
@en
Feasibility of newborn screening for guanidinoacetate methyltransferase
@nl
P2093
P2860
P1476
Feasibility of newborn screeni ...... transferase (GAMT) deficiency.
@en
P2093
Elisabeth Schwarz
Harper Randall
Irene DeBiase
Maren Jensen
Marzia Pasquali
Tatiana Yuzyuk
P2860
P2888
P304
P356
10.1007/S10545-013-9662-7
P50
P577
2013-11-26T00:00:00Z
P6179
1013387830