Tracing the Origin of L-2-Hydroxyglutaric Aciduria in a Family
Author:
Publisher
Informa UK Limited
Subject
General Medicine,General Neuroscience
Link
http://www.tandfonline.com/doi/pdf/10.1080/00207450903139655
Reference10 articles.
1. L-2-hydroxyglutaric acidemia: A novel inherited neurometabolic disease
2. An Adult Form of L-2-Hydroxyglutaric Aciduria Revealed by Tremor
3. L-2-Hydroxyglutaric aciduria: MRI in seven cases
4. l -2-Hydroxyglutaric aciduria: two Japanese adult cases in one family
5. l-2-Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters
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1. Postural tremor in L-2-hydroxyglutaric aciduria is associated with cerebellar atrophy;Neurological Sciences;2021-08-24
2. Labordiagnostik bei angeborenen Stoffwechselstörungen;Monatsschrift Kinderheilkunde;2020-06-25
3. Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia;Metabolic Brain Disease;2015-12-19
4. L-2-hydroxyglutaric aciduria: A case report;Srpski arhiv za celokupno lekarstvo;2014
5. Organic Acidurias 1;LaboratoriumsMedizin;2011-01
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