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Disorders of creatine transport and metabolism.

author

Nicola Longo

2000 -

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

date of publication: 2011-02-09

Cites articles 35

Date

Title

Authors

2010-08-01

Creatine transporter deficiency in two half-brothers.

Nicola Longo
2010-07-07

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

Ann Saada
2009-11-01

GAMT, a p53-inducible modulator of apoptosis, is critical for the adaptive response to nutrient stress
2009-07-01

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

Aaron Russell, Theo Wallimann
2009-02-01

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

Sylvia Stockler-Ipsiroglu, Saadet Mercimek-Mahmutoglu
2009-02-10

Mice lacking brain-type creatine kinase activity show defective thermoregulation

Antonio Bianco
2008-03-19

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

Efraim H Rosenberg
2008-11-21

Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency
2008-10-16

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

Angela Arias
2007-08-10

Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.
2007-01-01

Creatine: endogenous metabolite, dietary, and therapeutic supplement
2006-06-01

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

Vincenzo Leuzzi, Francesca Moro, Giovanni Cioni, Roberta Battini, Maria Grazia Alessandrì
2006-04-26

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

Efraim H Rosenberg, Ligia Almeida
2006-11-01

High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.
2006-07-19

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

Vincenzo Leuzzi
2006-08-01

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency.
2005-08-01

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

Kim M. Cecil
2005-11-01

Laboratory diagnosis of defects of creatine biosynthesis and transport
2004-07-01

Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle
2004-05-01

Characterization of seven novel mutations in seven patients with GAMT deficiency
2004-05-20

High prevalence of SLC6A8 deficiency in X-linked mental retardation

Hans-Hilger Ropers, Jean-Pierre Fryns, Tjitske Kleefstra, Claude Moraine, Efraim H Rosenberg
2004-05-01

Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency
2003-01-01

X-linked creatine transporter defect: an overview
2003-04-01

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

Lisa L. Sandell, Shirley M. Tilghman
2003-02

Creatine deficiency syndromes
2002-12

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

Vincenzo Leuzzi, Giovanni Cioni, Roberta Battini
2001-09-10

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

Maria Grazia Alessandrì, Francesco Fornai, Giovanni Cioni
2001-04-20

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

Kim M. Cecil
1997-06-01

Crystal structure and mechanism of human L-arginine:glycine amidinotransferase: a mitochondrial enzyme involved in creatine biosynthesis
1995-01-01

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

Marc Caron
1995-12-27

Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA
1994-02-14

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

Article - wd:Q50312835

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