Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449)-Reference-Cited by-同舟云学术

Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449)

Published:2018-02-09 Issue:4 Volume:6 Page:585-591
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Lamhonwah Anne-Marie¹,Barić Ivo²³,Lamhonwah Jessica¹,Grubić Marina²,Tein Ingrid¹⁴^ORCID

Affiliation:

1. Division of Neurology; Department of Pediatrics, and Genetics and Genome Biology Program; The Research Institute; The Hospital for Sick Children; University of Toronto; Toronto Ontario M5G 1X8 Canada

2. Department of Pediatrics; University Hospital Center Zagreb; Zagreb 10000 Croatia

3. School of Medicine; University of Zagreb; Zagreb 10000 Croatia

4. Department of Laboratory Medicine and Pathobiology; University of Toronto; Toronto Ontario M5G 1X8 Canada

Funder

Rare Diseases Foundation

Publisher

Wiley

Subject

General Medicine

Reference27 articles.

1. Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy;Lamhonwah;Am. J. Med. Genet.,2002

2. Expression patterns of the organic cation/carnitine transporter family in adult murine brain;Lamhonwah;Brain Dev.,2008

3. Gilliam , J.E. 1995 Attention-deficit/hyperactivity disorder test

4. Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy;Tein;Pediatr. Res.,1990

5. A third human carnitine/organic cation transporter (OCTN3) as a candidate for the 5q31 Crohn's disease locus (IBD5);Lamhonwah;Biochem. Biophys. Res. Commun.,2003

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3. OCTN: A Small Transporter Subfamily with Great Relevance to Human Pathophysiology, Drug Discovery, and Diagnostics;SLAS DISCOVERY: Advancing the Science of Drug Discovery;2018-12-07