Associated Papers
A de novo mutation of ADAMTS8 in a patient with Wiedemann-Steiner syndrome.
Wang S et al.
Molecular Cytogenetics, 2023
37649104 (PubMed )
Supplement: 13039_2023_654_MOESM1_ESM.xlsx › Sheet1
Genetic background and clinical characteristics of infantile hyperammonemia.
Li M et al.
Translational Pediatrics, 2023
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil
Propionyl-CoA carboxylase - A review.
Wongkittichote P et al.
Molecular Genetics and Metabolism, 2017
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Park KJ et al.
Annals of Laboratory Medicine, 2016
27578510 (PubMed )
Supplement: alm-36-561-s006.pdf
Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.
Gupta D et al.
Genetic Testing and Molecular Biomarkers, 2016
Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation.
Nagao M et al.
Molecular Genetics and Metabolism, 2013
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.
Yang X et al.
Molecular Genetics and Metabolism, 2004
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Desviat LR et al.
Molecular Genetics and Metabolism, 0
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