An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis-Reference-Cited by-同舟云学术

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An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis

Published:1998-06-29 Issue:1 Volume:157 Page:50-52
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Pérez-Cerdá C.,Merinero B.,Martí M.,Cabrera J. C.,Peña L.,García M. J.,Gangoiti J.,Sanz P.,Rodríguez-Pombo P.,Hoenicka J.,Richard E.,Muro S.,Ugarte M.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s004310050765.pdf

Cited by 39 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. Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia;Molecular Therapy - Nucleic Acids;2024-03

2. Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review;BMC Medical Genomics;2022-03-16

3. Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision;Journal of Inherited Metabolic Disease;2021-03-09

4. A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report;BMC Medical Genetics;2020-08-20

5. Disorders of Amino Acid Metabolism and Canavan Disease;Developmental Neuropathology;2018-03-09

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