Disorders of creatine transport and metabolism. (Q50312835)

2 March 2018

title

Disorders of creatine transport and metabolism. (English)

1 reference

2 March 2018

author

Nicola Longo

1

1 reference

2 March 2018

author name string

Orly Ardon

2

1 reference

2 March 2018

Rena Vanzo

3

1 reference

2 March 2018

Elizabeth Schwartz

4

1 reference

2 March 2018

Marzia Pasquali

5

1 reference

2 March 2018

publication date

9 February 2011

1 reference

2 March 2018

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

published in

1 reference

2 March 2018

volume

157C

1 reference

2 March 2018

issue

1

1 reference

2 March 2018

page(s)

72-78

1 reference

2 March 2018

Creatine transporter deficiency in two half-brothers.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

Creatine: endogenous metabolite, dietary, and therapeutic supplement

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

Arginine supplementation in four patients with X-linked creatine transporter defect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

The purification and characterization of human kidney L-arginine:glycine amidinotransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

Crystal structure and mechanism of human L-arginine:glycine amidinotransferase: a mitochondrial enzyme involved in creatine biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

The amino acid sequences of human and pig L-arginine:glycine amidinotransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

GAMT, a p53-inducible modulator of apoptosis, is critical for the adaptive response to nutrient stress

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

Developmental changes in the expression of creatine synthesizing enzymes and creatine transporter in a precocial rodent, the spiny mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

Characterization of seven novel mutations in seven patients with GAMT deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

Incidence of brain creatine transporter deficiency in males with developmental delay referred for brain magnetic resonance imaging

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

High prevalence of SLC6A8 deficiency in X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

X-linked creatine transporter defect: an overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

Creatine deficiency syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

Mice lacking brain-type creatine kinase activity show defective thermoregulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

Laboratory diagnosis of defects of creatine biosynthesis and transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30292

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.30292

1 reference

2 March 2018

PubMed ID

21308988

1 reference

2 March 2018