Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia-Reference-Cited by-同舟云学术

Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia

Published:2021-12 Issue: Volume:98 Page:48-53
ISSN:0009-9120
Container-title:Clinical Biochemistry
language:en
Short-container-title:Clinical Biochemistry

Author:

Habib Anasufiza^ORCID,Azize Nor Azimah Abdul,Rahman Salina Abd,Yakob Yusnita,Suberamaniam Vengadeshwaran,Nazri Muhammad Irfan Bukhari Ahmad,Abdullah Sani Huzaimah,Ch'ng Gaik-Siew,Yin Leong Huey,Olpin Simon^ORCID,Lock-Hock Ngu

Publisher

Elsevier BV

Subject

Clinical Biochemistry,General Medicine

Reference29 articles.

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3. Mitochondrial fatty-acid oxidation disorders;Kompare;Semin. Pediatr. Neurol.,2008

4. A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency;Ikeda;Mol. Genet. Metab. Rep.,2017

5. Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid β-oxidation disorders;Sim;Metabolism,2002

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. Low C0 and normal C16 and C18:1 masking the diagnosis of carnitine palmitoyltransferase II deficiency including a novel CPT2 variant: A case report;Archives de Pédiatrie;2024-01

2. Metabolomic analysis for asymptomatic hyperuricemia and gout based on a combination of dried blood spot sampling and mass spectrometry technology;Journal of Orthopaedic Surgery and Research;2023-10-11

3. Acylcarnitine ratio indices in diagnosing carnitine-acylcarnitine translocase deficiency in newborns;Translational Pediatrics;2023-09

4. Dataset from dried blood spot acylcarnitine for detection of Carnitine-Acylcarnitine Translocase (CACT) deficiency and Carnitine Palmitoyl Transferase 2 (CPT2) deficiency;Data in Brief;2023-06

5. Do renal and cardiac malformations in the fetus signal carnitine palmitoyltransferase II deficiency? A rare lethal fatty acid oxidation defect;BMJ Case Reports;2022-12