Case Report: Rhabdomyolysis in Glutaric Aciduria Type I
Author:
Affiliation:
1. Metabolic Unit; Great Ormond Street Hospital London
2. ; Department of Paediatrics; Chase Farm Hospital; London UK
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000005635.89043.8a/fullpdf
Reference3 articles.
1. Glutaric aciduria I: creatine supplementation restores creatine phosphate levels in mixed cortex cells from rat incubated with 3-hydroxyglutarate;Das;Mol Genet Metab,2003
2. Glutaric aciduria type I: pathomechanisms of neurodegeneration;Ullrich;J Inherit Metab Dis,1999
3. Recurrent rhabdomyolysis in a child with glutaric aciduria type I;Wilson;J Inherit Metab Dis,1999
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1. Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision;Journal of Inherited Metabolic Disease;2022-11-17
2. Rhabdomyolysis, Acute Kidney Injury, and a Novel Frameshift Mutation in a Child with Glutaric Acidemia Type I;Nephron;2021
3. Metabolomics Adaptation of Juvenile Pacific Abalone Haliotis discus hannai to Heat Stress;Scientific Reports;2020-04-14
4. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision;Journal of Inherited Metabolic Disease;2016-11-16
5. Recurrent rhabdomyolysis and glutaric aciduria type I: a case report and literature review;World Journal of Pediatrics;2016-06-29
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