Associated Papers
Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.
Tabassum I et al.
International Journal of Molecular Sciences, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
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
Newborn Screening in Japan-2021.
Tajima T
International Journal of Neonatal Screening, 2022
Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant.
Tajima G et al.
International Journal of Neonatal Screening, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates.
Lee H et al.
Yonsei Medical Journal, 2019
Systematic literature review and meta-analysis on the epidemiology of propionic acidemia.
Almási T et al.
Orphanet Journal of Rare Diseases, 2019
Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia.
Gotoh K et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences, 2017
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Park KJ et al.
Annals of Laboratory Medicine, 2016
Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.
Chiu YH et al.
Biochemical Genetics, 2014
Natural history of propionic acidemia.
Pena L et al.
Molecular Genetics and Metabolism, 2012
Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism.
Kuhara T
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences, 2007
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.
Yorifuji T et al.
Human Genetics, 2002
Gas chromatographic-mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples.
Kuhara T et al.
Journal of Inherited Metabolic Disease, 2002
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Desviat LR et al.
Molecular Genetics and Metabolism, 0