(Q31036314)

4 September 2017

X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype (English)

1 reference

creatine transporter deficiency

4 September 2017

1 reference

1 reference

I A Anselm

1

1 reference

4 September 2017

F S Alkuraya

2

1 reference

4 September 2017

G S Salomons

3

1 reference

4 September 2017

C Jakobs

4

1 reference

4 September 2017

A B Fulton

5

1 reference

4 September 2017

M Mazumdar

6

1 reference

4 September 2017

M Rivkin

7

1 reference

4 September 2017

R Frye

8

1 reference

4 September 2017

T Young Poussaint

9

1 reference

4 September 2017

D Marsden

10

1 reference

4 September 2017

language of work or name

1 reference

1 February 2006

1 reference

Journal of Inherited Metabolic Disease

4 September 2017

1 reference

4 September 2017

29

1 reference

4 September 2017

1

1 reference

4 September 2017

214-219

1 reference

Development of the cone ERG in infants

4 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393549

Long-range control of gene expression: emerging mechanisms and disruption in disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393549

High prevalence of SLC6A8 deficiency in X-linked mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393549

X-linked creatine transporter defect: an overview

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393549

Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393549

Creatine deficiency syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393549

Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393549

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393549

Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393549

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393549

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393549

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393549

On the mechanisms of neuroprotection by creatine and phosphocreatine

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393549

Creatine and creatinine metabolism

21 June 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393549

21 June 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393549

Crystalline mitochondrial inclusion bodies isolated from creatine depleted rat soleus muscle.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393549

Differential effects of creatine depletion on the regulation of enzyme activities and on creatine-stimulated mitochondrial respiration in skeletal muscle, heart, and brain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393549

Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393549

Rod photoreceptor function in children with mitochondrial disorders

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-006-0123-4

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-006-0123-4

Development of ERG responses: the ISCEV rod, maximal and cone responses in normal subjects.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393549

The clinical syndrome of creatine transporter deficiency

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393549

Congenital creatine transporter deficiency

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393549

The development of scotopic sensitivity.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393549

A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies

25 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16601897

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Upregulation of respiratory chain enzymes in guanidinoacetate methyltransferase deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16601897

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-006-0123-4

1 reference

Dimensions Publication ID

4 September 2017

0 references

1 reference

4 September 2017

PubMed publication ID

16601897

1 reference