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注意:仅列出部分参考文献,下载原文获取全部文献信息。Creatine Transporter Deficiency in Two Half-Brothers
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
L-arginine:glycine amidinotransferase (AGAT) deficiency: Clinical presentation and response to treatment in two patients with a novel mutation
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Developmental changes in the expression of creatine synthesizing enzymes and creatine transporter in a precocial rodent, the spiny mouse
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被撤回的出版物: GAMT, a p53-Inducible Modulator of Apoptosis, Is Critical for the Adaptive Response to Nutrient Stress (Retracted article. See vol. 51, pg. 552, 2013)
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Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency
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Arginine supplementation in four patients with X-linked creatine transporter defect
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Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency
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Creatine transporter deficiency:: Prevalence among patients with mental retardation and pitfalls in metabolite screening
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X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology
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Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn:: Early treatment can prevent phenotypic expression of the disease
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Laboratory diagnosis of defects of creatine biosynthesis and transport
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Incidence of brain creatine transporter deficiency in males with developmental delay referred for brain magnetic resonance imaging
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High prevalence of SLC6A8 deficiency in X-linked mental retardation
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AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Guanidinoacetate methyltransferase deficiency:: differences of creatine uptake in human brain and muscle
R Ensenauer et al.
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Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency
A Schmidt et al.
HUMAN MOLECULAR GENETICS (2004)
Gatm, a creatine synthesis enzyme, is imprinted in mouse placenta
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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
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A Schulze
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Creatine depletion in a new case with AGAT deficiency:: clinical and genetic study in a large pedigree
R Battini et al.
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Arginine:glycine amidinotransferase deficiency:: The third inborn error of creatine metabolism in humans
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X-linked creatine-transporter gene (SLC6A8) defect:: A new creatine-deficiency syndrome
GS Salomons et al.
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