In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency.

Autor: Maryami F; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Pasteur St., Tehran, Iran., Rismani E; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Pasteur St., Tehran, Iran., Davoudi-Dehaghani E; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Pasteur St., Tehran, Iran., Khalesi N; Department of Pediatrics and Neonatal Intensive Care Unit, Ali-Asghar Children's Hospital, Iran University of Medical Sciences, Tehran, Iran., Talebi S; Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran., Mahdian R; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Pasteur St., Tehran, Iran., Zeinali S; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Pasteur St., Tehran, Iran.; Kawsar Human Genetics research Center, Tehran, Iran.

Publikováno v: Iranian biomedical journal [Iran Biomed J] 2023 Sep 01; Vol. 27 (5), pp. 307-19. Date of Electronic Publication: 2023 Jun 19.

Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.

Autor: Lasio MLD; Department of Pathology, University of Utah, Salt Lake City, UT, USA; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh and Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Leshinski AC; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh and Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Ducich NH; Case Western Reserve University School of Medicine, Cleveland, OH, USA., Flore LA; Division of Genetic, Genomic and Metabolic Disorders, Children's Hospital of Michigan, Detroit, MI and Central Michigan University College of Medicine, Mount Pleasant, MI, USA., Lehman A; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh and Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA; Division of Genetic, Genomic and Metabolic Disorders, Children's Hospital of Michigan, Detroit, MI and Central Michigan University College of Medicine, Mount Pleasant, MI, USA., Shur N; Genetics and Metabolism, Rare Disease Institute, Children's National Hospital, Washington, DC, USA., Jayakar PB; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA., Hainline BE; Department of Medical and Molecular Genetics, Riley Hospital at Indiana University Health, Indianapolis, IN, USA., Basinger AA; Medical Genetics, Cook Children's Hospital, Fort Worth, TX, USA., Wilson WG; Department of Pediatrics, University of Virginia Health, Charlottesville, VA, USA., Diaz GA; Division of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Erbe RW; Departments of Pediatrics and Medicine, University at Buffalo, Buffalo, NY, USA., Koeberl DD; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Vockley J; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh and Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA; Department of Human Genetics, University of Pittsburgh School of Public Health, Pittsburgh, PA, USA., Bedoyan JK; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh and Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. Electronic address: jbedoyan@pitt.edu.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2023 Jun; Vol. 139 (2), pp. 107605. Date of Electronic Publication: 2023 May 09.

[Analysis of child with pyruvate carboxylase deficiency type A due to compound heterozygous variants of the PC gene].

Autor: Zhao X; Department of Intensive Care Unit, Anhui Provincial Children's Hospital, Hefei, Anhui 230051, China. jindq69@163.com., Ding J, Jin D

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2022 Sep 10; Vol. 39 (9), pp. 996-1000.

Biotin-responsive Multiple Carboxylase Deficiency (MCD).

Autor: Majid H; Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan., Ahmed S; Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan., Muneer S; Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan., Hamid R; Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan., Jafri L; Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan., Khan AH; Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan.

Publikováno v: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP [J Coll Physicians Surg Pak] 2022 Jun; Vol. 32 (6), pp. 823-825.

Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation.

Autor: Coci EG; Department for Neuropediatrics, University Children's Hospital, Ruhr University Bochum, Bochum, Germany.; Institute for Neuropediatrics and Social Pediatrics, Hamburg, Germany., Gapsys V; Computational Biomolecular Dynamics Group, Max Plank Institute for Biophysical Chemistry, Göttingen, Germany., Shur N; Division of Genetics, Albany Medical Center, Albany, New York.; Children's National Medical Center, Washington, District of Columbia., Shin-Podskarbi Y; Molecular Genetics and Metabolism Laboratory, Munich, Germany., de Groot BL; Computational Biomolecular Dynamics Group, Max Plank Institute for Biophysical Chemistry, Göttingen, Germany., Miller K; Division of Genetics, Albany Medical Center, Albany, New York., Vockley J; Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania., Sondheimer N; Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Ganetzky R; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Freisinger P; Department of Pediatrics, Klinikum Reutlingen, Reutlingen, Germany.

Publikováno v: Human mutation [Hum Mutat] 2019 Jun; Vol. 40 (6), pp. 816-827. Date of Electronic Publication: 2019 Apr 13.