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A fatal case of 2-keto-, 2-hydroxy- and 2-aminoadipic aciduria: Relation of organic aciduria to phenotype?

✍ Scribed by C. Jakobs; A. J. C. de Grauw


Publisher
Springer
Year
1992
Tongue
English
Weight
162 KB
Volume
15
Category
Article
ISSN
0141-8955

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D-2-hydroxyglutaric aciduria: A case wit
✍ Clarke, Nigel F. ;Andrews, Ian ;Carpenter, Kevin ;Jakobs, Cornelis ;van der Knaa πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 137 KB πŸ‘ 2 views

D-2-hydroxyglutaric aciduria (D2HGA) is a rare autosomal recessive disorder with variable clinical expression. The biochemical defect is unknown at present. Previously reported cases have either followed a severe clinical course characterized by neonatal epileptic encephalopathy, cortical blindness,