A Treatable Cause of Intellectual Disability and Autism in a Young Child-Reference-Cited by-同舟云学术

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A Treatable Cause of Intellectual Disability and Autism in a Young Child

Published:2020-03-24 Issue:10 Volume:87 Page:850-851
ISSN:0019-5456
Container-title:The Indian Journal of Pediatrics
language:en
Short-container-title:Indian J Pediatr

Author:

Yoganathan Sangeetha,Sharma Suvasini,Varman Mugil,Malhotra Mukul,Chandran Mahalakshmi,Arunachal Gautham,Thomas Maya

Funder

INDIAN JOURNAL OF PEDIATRICS, NEW DELHI, INDIA

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s12098-020-03225-y.pdf

Reference5 articles.

1. Schulze A. Creatine deficiency syndromes. Mol Cell Biochem. 2003;244:143–50.

2. van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, et al. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet. 2013;50:463–72.

3. Alcaide P, Rodriguez-Pombo P, Ruiz-Sala P, et al. A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene. Dev Med Child Neurol. 2010;52:215–7.

4. Mancini GM, Catsman-Berrevoets CE, de Coo IF, et al. Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families. Am J Med Genet A. 2005;132A:288–95.

5. van de Kamp JM, Pouwels PJ, Aarsen FK, et al. Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect. J Inherit Metab Dis. 2012;35:141–9.

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