Associated Papers
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.
Heddar A et al.
Ebiomedicine, 2022
Long-term follow-up with filter paper samples in patients with propionic acidemia.
Stanescu S et al.
Jimd Reports, 2021
Whole genome sequencing and rare variant analysis in essential tremor families.
Odgerel Z et al.
Plos One, 2019
Propionyl-CoA carboxylase - A review.
Wongkittichote P et al.
Molecular Genetics and Metabolism, 2017
Subacute presentation of propionic acidemia.
Delgado C et al.
Journal of Child Neurology, 2007
Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli.
Jiang H et al.
The Journal of Biological Chemistry, 2005
Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.
Pérez-Cerdá C et al.
Biochimica Et Biophysica Acta, 2003
Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.
Pérez B et al.
Molecular Genetics and Metabolism, 2003
Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.
Chloupkova M et al.
Human Mutation, 2002
Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.
Muro S et al.
Molecular Genetics and Metabolism, 2001
Mutations affecting the beta-beta homomeric interaction in propionic acidaemia: an approach to the determination of the beta-propionyl-CoA carboxylase functional domains.
Muro S et al.
Journal of Inherited Metabolic Disease, 2000
Potential relationship between genotype and clinical outcome in propionic acidaemia patients.
Pérez-Cerdá C et al.
European Journal of Human Genetics : Ejhg, 2000
Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.
Muro S et al.
Journal of Medical Genetics, 1999
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
Ugarte M et al.
Human Mutation, 1999
Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.
Rodríguez-Pombo P et al.
American Journal of Human Genetics, 1998
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Desviat LR et al.
Molecular Genetics and Metabolism, 0