Associated Papers
Heart and heart-liver transplantation in Amish patients with propionic acidemia.
Whitehead EH et al.
Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2025
Genetic disease amongst the Plain community.
Mascia KL
Current Opinion in Pediatrics, 2024
Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case series.
Scott EM et al.
Molecular Genetics and Metabolism Reports, 2024
Establishment of a non-integrated iPSC line (SDQLCHi043-A) from a male infant with propionic acidemia carrying compound heterozygote mutations in PCCB gene.
Li Z et al.
Stem Cell Research, 2024
Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia.
Spangsberg Petersen US et al.
Molecular Therapy. Nucleic Acids, 2024
Natural history of propionic acidemia in the Amish population.
Ehrenberg S et al.
Molecular Genetics and Metabolism Reports, 2022
Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
Lynch MT et al.
American Journal of Medical Genetics. Part A, 2022
Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review.
Li Y et al.
Bmc Medical Genomics, 2022
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations.
Held PK et al.
International Journal of Neonatal Screening, 2022
Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance.
Stanescu S et al.
Orphanet Journal of Rare Diseases, 2021
Long-term follow-up with filter paper samples in patients with propionic acidemia.
Stanescu S et al.
Jimd Reports, 2021
Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia.
Wenger O et al.
Molecular Genetics and Metabolism, 2020
Dual mRNA therapy restores metabolic function in long-term studies in mice with propionic acidemia.
Jiang L et al.
Nature Communications, 2020
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant.
Hannah WB et al.
Molecular Genetics and Metabolism Reports, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.
Kember RL et al.
Translational Psychiatry, 2018
Long-term outcomes in Amish patients diagnosed with propionic acidemia.
Scott Schwoerer J et al.
Molecular Genetics and Metabolism Reports, 2018
Premature Ovarian Failure in French Canadian Leigh Syndrome.
Ghaddhab C et al.
The Journal of Pediatrics, 2017
Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation.
McCrory NM et al.
The Journal of Pediatrics, 2017
Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community.
Scott Schwoerer J et al.
Molecular Genetics and Metabolism Reports, 2016
Mechanisms of acquired long QT syndrome in patients with propionic academia.
Bodi I et al.
Heart Rhythm, 2016
Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.
Bhattacharjee A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.
Gallego-Villar L et al.
Journal of Inherited Metabolic Disease, 2013
Mutation analysis in 54 propionic acidemia patients.
Kraus JP et al.
Journal of Inherited Metabolic Disease, 2012
45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?
Lam C et al.
Molecular Genetics and Metabolism, 2011
Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania.
Puffenberger EG
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2003
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
Transcarboxylase 12S crystal structure: hexamer assembly and substrate binding to a multienzyme core.
Hall PR et al.
The Embo Journal, 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
Changes in the carboxyl terminus of the beta subunit of human propionyl-CoA carboxylase affect the oligomer assembly and catalysis: expression and characterization of seven patient-derived mutant forms of PCC in Escherichia coli.
Chloupková M et al.
Molecular Genetics and Metabolism, 2000
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
Ugarte M et al.
Human Mutation, 1999
Interallelic complementation of beta-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs.
Loyer M et al.
Human Molecular Genetics, 1995
Mutations participating in interallelic complementation in propionic acidemia.
Gravel RA et al.
American Journal of Human Genetics, 1994
Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.
Gravel RA et al.
American Journal of Human Genetics, 1977
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Desviat LR et al.
Molecular Genetics and Metabolism, 0