Two novel mutations inSLC6A8cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families-Reference-Cited by-同舟云学术

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Two novel mutations inSLC6A8cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families

Published:2004-12-22 Issue:3 Volume:132A Page:288-295
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Mancini G.M.S.,Catsman-Berrevoets C.E.,de Coo I.F.M.,Aarsen F.K.,Kamphoven J.H.J.,Huijmans J.G.,Duran M.,van der Knaap M.S.,Jakobs C.,Salomons G.S.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference20 articles.

1. Creatine and guanidinoacetate: Diagnostic markers for inborn errors in creatine biosynthesis and transport;Almeida;Mol Genet Metab,2004

2. Unusual clinical and magnetic resonance imaging findings in a family with proteolipid protein gene mutation;Battini;Arch Neurol,2003

3. X-linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8;Bizzi;Ann Neurol,2002

4. Endogenous synthesis and transport of creatine in the rat brain: An in situ hybridization study;Braissant;Brain Res Mol Brain Res,2001

5. Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?;Cecil;Ann Neurol,2001

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1. Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8;Journal of Molecular Biology;2024-01

2. Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation;American Journal of Medical Genetics Part A;2023-10-18

3. Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder;Gene;2021-02

4. The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome;Frontiers in Synaptic Neuroscience;2020-10-23

5. A Treatable Cause of Intellectual Disability and Autism in a Young Child;The Indian Journal of Pediatrics;2020-03-24

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