Prenatal onset of the neuroradiologic phenotype of pyruvate carboxylase deficiency due to homozygous PC c. 1828G > A mutations-Reference-Cited by-同舟云学术

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Prenatal onset of the neuroradiologic phenotype of pyruvate carboxylase deficiency due to homozygous PC c. 1828G > A mutations

Published:2021-06-14 Issue:1 Volume:61 Page:42-47
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Mhanni Aizeddin A.¹,Rockman‐Greenberg Cheryl¹,Ryner Lawrence²,Bunge Martin³

Affiliation:

1. Department of Pediatrics and Child Health Max Rady College of Medicine, Rady Faculty of Health Sciences Winnipeg Canada

2. Research Institute in Oncology and Hematology, Cancer Care Manitoba Winnipeg Canada

3. Department of Radiology, Rady Faculty of Health Sciences, Max Rady College of Medicine University of Manitoba Winnipeg Canada

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12235

Reference16 articles.

1. Formation of Oxaloacetate from Pyruvate and CO2

2. Pyruvate carboxylase deficiency: Mechanisms, mimics and anaplerosis

3. Intracellular distribution of pyruvate car☐ylase in livers of normal and cortisol treated rats

4. Pyruvate car☐ylase: an astrocyte-specific enzyme implicated in the replenishment of amino acid neurotransmitter pools

5. Amerindian Pyruvate Carboxylase Deficiency Is Associated with Two Distinct Missense Mutations

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B;Frontiers in Endocrinology;2023-07-07

2. The Presence of Pyruvate Carboxylase in the Human Brain and its Role in the Survival of Cultured Human Astrocytes;Physiological Research;2023-06-30

3. Creatine Deficiency Disorders: Phenotypes, Genotypes, Diagnosis, and Treatment Outcomes;Turkish Archives of Pediatrics;2023-03-01

4. Pure Interstitial Trisomy 11q Arising from a Nonrecurrent 11q13.1q22.3 Mosaic Intrachromosomal Duplication in a Patient with Craniofacial Dysmorphism and Genital Anomalies;Molecular Syndromology;2023

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