Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
One potential hotspot SLC25A20 gene variants in Chinese patients with carnitine-acylcarnitine translocase deficiency.
Li X et al.
Frontiers in Pediatrics, 2022
Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature.
Vitoria I et al.
Jimd Reports, 2015
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.
Korman SH et al.
Molecular Genetics and Metabolism, 2006
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
Iacobazzi V et al.
Human Mutation, 2004
Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects.
Rubio-Gozalbo ME et al.
Molecular Aspects of Medicine, 0
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