Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China-Reference-Cited by-同舟云学术

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Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China

Published:2019-08 Issue: Volume:495 Page:476-480
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Tang Chengfang,Liu Sichi,Wu Meigui,Lin Suifang,Lin Yunting,Su Ling,Zhang Jinfeng,Feng Yi,Huang Yonglan^ORCID

Funder

Guangzhou Science Technology and Innovation Commission

Guangzhou Women and Children's Medical Center

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference12 articles.

1. Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects;Rubio-Gozalbo;Mol. Asp. Med.,2004

2. Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations;Hui;Pathology,2014

3. Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: two case reports and brief literature review;Yan;Medicine,2017

4. A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency;Korman;Mol. Genet. Metab.,2006

5. Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome;Lopriore;Eur. J. Pediatr.,2001

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1. Sudden death with cardiac involvement in a neonate with carnitine-acylcarnitine translocase deficiency;Cardiovascular Pathology;2024-05

2. Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry;International Journal of Neonatal Screening;2024-03-29

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

4. Increased acylcarnitine ratio indices in newborn screening for carnitine-acylcarnitine translocase deficiency shows increased sensitivity and reduced false-positivity;Translational Pediatrics;2023-05

5. Carnitine-acylcarnitine translocase deficiency caused by SLC25A20 gene heterozygous variants in twins: a case report;Journal of International Medical Research;2023-04

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