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

Dorum, Sevil; Varal, Ipek; Gorukmez, Orhan; Dogan, Pelin; Ekici, Arzu

doi:10.1515/jpem-2019-0038

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

Atıf İçin Kopyala

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

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.32, sa.7, ss.781-783, 2019 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 32 Sayı: 7
Basım Tarihi: 2019
Doi Numarası: 10.1515/jpem-2019-0038
Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.781-783
Bursa Uludağ Üniversitesi Adresli: Hayır

Özet

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.