(Q50312835)

2 March 2018

title

Disorders of creatine transport and metabolism (English)

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2 March 2018

author

Nicola Longo

1

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2 March 2018

author name string

Orly Ardon

2

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2 March 2018

Rena Vanzo

3

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2 March 2018

Elizabeth Schwartz

4

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2 March 2018

Marzia Pasquali

5

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2 March 2018

publication date

9 February 2011

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2 March 2018

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

published in

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volume

157C

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2 March 2018

issue

1

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2 March 2018

page(s)

72-78

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2 March 2018

Creatine transporter deficiency in two half-brothers.

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Gatm, a creatine synthesis enzyme, is imprinted in mouse placenta

21 January 2018

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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

21 January 2018

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21 January 2018

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Inhibition of arginine-glycine amidinotransferase by ornithine. A possible mechanism for the muscular and chorioretinal atrophies in gyrate atrophy of the choroid and retina with hyperornithinemia

21 January 2018

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Mice lacking brain-type creatine kinase activity show defective thermoregulation

21 January 2018

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Laboratory diagnosis of defects of creatine biosynthesis and transport

21 January 2018

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Intracellular compartmentation, structure and function of creatine kinase isoenzymes in tissues with high and fluctuating energy demands: the 'phosphocreatine circuit' for cellular energy homeostasis

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.C.30292

1 reference

2 March 2018

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2 March 2018