Presence of normal creatine in the muscle of a patient with a mutation in the creatine transporter: a case study. (Q38445323)

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4 January 2020

title

Presence of normal creatine in the muscle of a patient with a mutation in the creatine transporter: a case study (English)

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4 January 2020

3

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author name string

Gail J Pyne-Geithman

1

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4 January 2020

Ton J deGrauw

2

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4 January 2020

Gail Chuck

4

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4 January 2020

Melissa A Lyons

5

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4 January 2020

Yukisato Ishida

6

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Joseph F Clark

7

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publication date

1 July 2004

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Molecular and Cellular Biochemistry

4 January 2020

published in

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volume

262

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issue

1-2

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4 January 2020

page(s)

35-39

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https://scigraph.springernature.com/pub.10.1023/b:mcbi.0000038213.15646.4a

4 January 2020

exact match

0 references

cites work

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Endogenous synthesis and transport of creatine in the rat brain: an in situ hybridization study

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Upregulation of respiratory chain enzymes in guanidinoacetate methyltransferase deficiency

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Myofibrillar or mitochondrial creatine kinase deficiency alone does not impair mouse diaphragm isotonic function

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Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?

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Creatine kinase as an intracellular regulator

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Congenital creatine transporter deficiency

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Creatine synthesis and transport systems in the male rat reproductive tract

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X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

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Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency

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Dietary creatine supplementation does not affect some haematological indices, or indices of muscle damage and hepatic and renal function

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12 December 2020

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28

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12 December 2020

Does dietary creatine supplementation play a role in skeletal muscle metabolism and performance?

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Compartmentation of ATP synthesis and utilization in smooth muscle: roles of aerobic glycolysis and creatine kinase

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12 December 2020

Fluorimetric determination of creatine

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Guanidinoacetate methyltransferase activity in tissues and cultured cells

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12 December 2020

In situ hybridization analysis of CHOT1, a creatine transporter, in the rat central nervous system.

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Creatine and its application as an ergogenic aid.

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The putative rat choline transporter CHOT1 transports creatine and is highly expressed in neural and muscle-rich tissues

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The clinical syndrome of creatine transporter deficiency

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12 December 2020