A novel mutation leading to the lethal form of carnitine palmitoyltransferase type-2 deficiency

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Dorum S., Varal I. G., Gorukmez O., Dogan P., Ekici A.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.32, no.7, pp.781-783, 2019 (SCI-Expanded)

• Publication Type: Article / Article
• Volume: 32 Issue: 7
• Publication Date: 2019
• Doi Number: 10.1515/jpem-2019-0038
• Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.781-783
• Bursa Uludag University Affiliated: No

Abstract

Background: The clinical phenotypes of carnitine palmitoyltransferase type-2 deficiency (CPT2D) are classified into lethal neonatal, severe infantile and muscle forms. The rarest form is the lethal neonatal form.