Acute myeloneuropathy due to Glutaric aciduria-1: expanding the phenotypic spectrum.
Author:
Affiliation:
1. National Institute of Mental Health and Neuro Sciences
2. PESIMSR: PES Institute of Medical Sciences and Research
3. NIMHANS: National Institute of Mental Health and Neuro Sciences
4. Children's Hospital of Eastern Ontario Research Institute
Abstract
Publisher
Research Square Platform LLC
Reference16 articles.
1. Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency;Sauer SW;J Neurochem,2006
2. Mutation analysis in glutaric aciduria type I;Zschocke J;J Med Genet,2000
3. Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1;Wang Q;Brain Dev,2014
4. Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1;Tamhankar PM;J Pediatr Genet,2021
5. Diagnosis and management of glutaric aciduria type I–revised recommendations;Kölker S;J Inherit Metab Dis,2011
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