Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes (Q50710334)

18 March 2018

title

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes (English)

1 reference

18 March 2018

author name string

Matthew S Comeaux

1 reference

18 March 2018

Jing Wang

1 reference

18 March 2018

Guoli Wang

1 reference

18 March 2018

Soledad Kleppe

1 reference

18 March 2018

Victor Wei Zhang

1 reference

18 March 2018

Eric S Schmitt

1 reference

18 March 2018

William J Craigen

1 reference

18 March 2018

Deborah Renaud

1 reference

18 March 2018

Qin Sun

1 reference

18 March 2018

Lee-Jun Wong

1 reference

18 March 2018

publication date

17 April 2013

1 reference

18 March 2018

Molecular Genetics and Metabolism

published in

1 reference

18 March 2018

volume

109

1 reference

18 March 2018

issue

1 reference

18 March 2018

page(s)

260-268

1 reference

18 March 2018

Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

Laboratory diagnosis of defects of creatine biosynthesis and transport

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

Reversible brain creatine deficiency in two sisters with normal blood creatine level

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

High prevalence of SLC6A8 deficiency in X-linked mental retardation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

The blood-brain barrier transport and cerebral distribution of guanidinoacetate in rats: involvement of creatine and taurine transporters

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

Disorders of creatine transport and metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

Creatine deficiency syndromes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

X-linked creatine transporter defect: an overview

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

Diagnosis of creatine metabolism disorders by determining creatine and guanidinoacetate in plasma and urine.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

Mitochondrial DNA polymerase mutations: an ever expanding molecular and clinical spectrum

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

Creatine metabolism in combined methylmalonic aciduria and homocystinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

Defining the pathogenicity of creatine deficiency syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

Glycine and L-arginine treatment causes hyperhomocysteinemia in cerebral creatine transporter deficiency patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.006

10.1016/J.YMGME.2013.04.006

7 January 2021

Identifiers

DOI

1 reference

18 March 2018

1 reference

18 March 2018