A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency-Reference-Cited by-同舟云学术

A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency

Published:2017-06 Issue: Volume:11 Page:69-71
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Ikeda Naohiro,Maruyama Shinsuke,Nakano Kanna,Imakiire Ryo,Ninomiya Yumiko,Seki Shunji,Yanagimoto Kosuke,Kakihana Yasuyuki,Hara Keiichi^ORCID,Tajima Go,Okamoto Yasuhiro^ORCID,Kawano Yoshifumi

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference9 articles.

1. Neonatal carnitine palmitoyltransferase II deficiency: failure of treatment despite prolonged survival;Hissink-Muller;BMJ Case Rep.,2009

2. A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency;Smeets;J. Hum. Genet.,2003

3. Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review;Sigauke;Lab. Investig.,2003

4. Antenatal presentation of carnitine palmitoyltransferase II deficiency;Elpeleg;Am. J. Med. Genet.,2001

5. CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency;Isackson;Mol. Genet. Metab.,2008

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia;Clinical Biochemistry;2021-12

2. Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target?;International Journal of Neonatal Screening;2021-08-13

3. Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening;Molecular Genetics and Metabolism Reports;2020-09

4. Carnitine palmitoyltransferase II deficiency with a focus on newborn screening;Journal of Human Genetics;2018-12-04

5. Newborn screening for carnitine palmitoyltransferase II deficiency using (C16 + C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity;Molecular Genetics and Metabolism;2017-11