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A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment

โœ Scribed by Celato, Andrea; Mitola, Chiara; Tolve, Manuela; Giannini, Maria Teresa; De Leo, Sabrina; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo

Book ID
123204865
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
379 KB
Volume
35
Category
Article
ISSN
0387-7604

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โœ Clarke, Nigel F. ;Andrews, Ian ;Carpenter, Kevin ;Jakobs, Cornelis ;van der Knaa ๐Ÿ“‚ Article ๐Ÿ“… 2003 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 137 KB ๐Ÿ‘ 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,