Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype–phenotype correlation-Reference-Cited by-同舟云学术

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

Published:2019-04-13 Issue:6 Volume:40 Page:816-827
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Coci Emanuele G.¹²^ORCID,Gapsys Vytautas³,Shur Natasha⁴⁵,Shin‐Podskarbi Yoon⁶,Groot Bert L.³,Miller Kathryn⁴,Vockley Jerry⁷,Sondheimer Neal⁸,Ganetzky Rebecca⁹^ORCID,Freisinger Peter¹⁰

Affiliation:

1. Department for NeuropediatricsUniversity Children's Hospital, Ruhr University BochumBochum Germany

2. Institute for Neuropediatrics and Social PediatricsHamburg Germany

3. Computational Biomolecular Dynamics GroupMax Plank Institute for Biophysical ChemistryGöttingen Germany

4. Division of GeneticsAlbany Medical CenterAlbany New York

5. Children's National Medical CenterWashington District of Columbia

6. Molecular Genetics and Metabolism LaboratoryMunich Germany

7. Children's Hospital of PittsburghUniversity of Pittsburgh School of MedicinePittsburgh Pennsylvania

8. Clinical and Metabolic GeneticsThe Hospital for Sick ChildrenToronto Ontario Canada

9. Division of Human GeneticsChildren's Hospital of PhiladelphiaPhiladelphia Pennsylvania

10. Department of PediatricsKlinikum ReutlingenReutlingen Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23742

Reference37 articles.

1. Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate

2. The Rosetta All-Atom Energy Function for Macromolecular Modeling and Design

3. Report of a Case and Additional Evidence for the “Mild” Phenotype

4. Pyruvate Carboxylase and Phosphoenolpyruvate Carboxykinase Activity in Leukocytes and Fibroblasts from a Patient with Pyruvate Carboxylase Deficiency

5. Unsuccessful treatment of severe pyruvate carboxylase deficiency with triheptanoin

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