Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria

J Neurol. 2011 Aug;258(8):1564-5. doi: 10.1007/s00415-011-5977-1. Epub 2011 Mar 8.

Authors

M Ali Pervaiz, Marc C Patterson, Eduard A Struys, Gajja S Salomons, Cornelis Jakobs, Devin Oglesbee, Salman Kirmani

PMID: 21384162
DOI: 10.1007/s00415-011-5977-1

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Acetyltransferases / genetics*
Alcohol Oxidoreductases / genetics*
Brain Diseases, Metabolic, Inborn / epidemiology*
Brain Diseases, Metabolic, Inborn / genetics*
Brain Diseases, Metabolic, Inborn / physiopathology
Child
Comorbidity
Female
Humans
Mucopolysaccharidosis III / epidemiology*
Mucopolysaccharidosis III / genetics*
Mucopolysaccharidosis III / physiopathology
Mutation

Substances

Alcohol Oxidoreductases
D2HGDH protein, human
Acetyltransferases
HGSNAT protein, human

Supplementary concepts

2-Hydroxyglutaricaciduria