Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency.
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Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATMInborn errors of creatine metabolism and epilepsy.Clinical proton MR spectroscopy in central nervous system disordersDiagnostic methods and recommendations for the cerebral creatine deficiency syndromes.In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency.X-linked creatine transporter deficiency: clinical aspects and pathophysiology.Homoarginine in the renal and cardiovascular systems.Homoarginine and mortality in an older population: the Hoorn study.Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.Promiscuous activity of arginine:glycine amidinotransferase is responsible for the synthesis of the novel cardiovascular risk factor homoarginine.
P2860
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P2860
Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency.
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
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2012年学术文章
@zh-my
2012年学术文章
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2012年學術文章
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2012年學術文章
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name
Developmental progress and cre ...... amidinotransferase deficiency.
@en
Developmental progress and cre ...... amidinotransferase deficiency.
@nl
type
label
Developmental progress and cre ...... amidinotransferase deficiency.
@en
Developmental progress and cre ...... amidinotransferase deficiency.
@nl
prefLabel
Developmental progress and cre ...... amidinotransferase deficiency.
@en
Developmental progress and cre ...... amidinotransferase deficiency.
@nl
P2093
P1476
Developmental progress and cre ...... amidinotransferase deficiency.
@en
P2093
Cornelis Jakobs
Gajja S Salomons
James A Barkovich
Joseph D T Ndika
Kathreen Johnston
Michael D Wirt
Ofir T Betsalel
Patricia O'Neill
P356
10.1016/J.YMGME.2012.01.017
P577
2012-01-27T00:00:00Z