Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development-Reference-Cited by-同舟云学术

Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development

Published:2021-09-29 Issue:1 Volume:63 Page:3-10
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Shelihan Ivan¹^ORCID,Rossignol Elsa¹²,Décarie Jean‐Claude³,Bonnefont Jean‐Paul⁴,Brivet Michèle⁴,Brunel‐Guitton Catherine⁵,Mitchell Grant A.¹

Affiliation:

1. Divisions of Medical Genetics (IS, CBG, GM) and Neurology (ER), Department of Pediatrics CHU Sainte‐Justine and Université de Montréal Montreal Quebec Canada

2. Department of Neurosciences CHU Sainte‐Justine and Université de Montréal Montreal, QC Quebec Canada

3. Department of Medical Imaging CHU Sainte‐Justine and Université de Montréal Montreal Quebec Canada

4. Medical Genetics Federation Necker Enfants Malades Hospital and IMAGINE Institute Paris France

5. Biochemical Diseases, Department of Pediatrics, Faculty of Medicine University of British Columbia, BC Children's Hospital Vancouver British Columbia

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12243

Reference53 articles.

1. Novel mutations associated with carnitine palmitoyltransferase II deficiency

2. Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency

3. Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency

4. Clinical and Biochemical Heterogeneity in an Italian Family with CPT II Deficiency due to Ser 113 Leu Mutation

5. Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects

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