(Q24336500)

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Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene

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Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene (English)

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Solute carrier family 6 member 8

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GOA release 2020-03-11

creatine transmembrane transport

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GOA release 2020-03-11

creatine transporter deficiency

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based on heuristic

inferred from title

Saadet Mercimek-Mahmutoglu

7

object named as

Saadet Mercimek-Mahmutoglu

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author name string

Caro-Lyne DesRoches

1

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Jaina Patel

2

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Peixiang Wang

3

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Berge Minassian

4

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Gajja S Salomons

5

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Christian R Marshall

6

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language of work or name

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publication date

10 July 2015

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565

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2

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187-91

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Quantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes

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inferred from DOI database lookup

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

1 reference

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based on heuristic

inferred from DOI database lookup

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

1 reference

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Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

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Exocytotic release of creatine in rat brain

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

1 reference

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

1 reference

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The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation

1 reference

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Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect

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X-linked creatine transporter deficiency: clinical aspects and pathophysiology

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

1 reference

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Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency

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Treatment of intractable epilepsy in a female with SLC6A8 deficiency

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

1 reference

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Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases

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Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

1 reference

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Crystal structure of a bacterial homologue of Na+/Cl--dependent neurotransmitter transporters

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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

1 reference

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.GENE.2015.04.011

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High prevalence of SLC6A8 deficiency in X-linked mental retardation

1 reference

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

1 reference

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Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

1 reference

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based on heuristic

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Creatine and creatinine metabolism

1 reference

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Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency.

1 reference

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Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

1 reference

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

1 reference

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Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

1 reference

9 November 2024

https://opencitations.net/index/api/v1/citations/10.1007/S10545-011-9345-1

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10.1016/J.GENE.2015.04.011

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