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Agata Fiumara

Agata Fiumara

Università degli Studi di Catania - Catania / Italy
Medical and Health Sciences / Pediatric Neurology
AD Scientific Index ID: 1766447
University of Catania
person_outline Agata Fiumara's MOST POPULAR ARTICLES
1-) Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome The American Journal of Human Genetics 87 (2), 282-288, 2010
2-) Autism and phenylketonuria Journal of autism and developmental disorders 33 (2), 201-204, 2003
3-) DPM2‐CDG: a muscular dystrophy–dystroglycanopathy syndrome with severe epilepsy Annals of neurology 72 (4), 550-558, 2012
4-) International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: diagnosis, treatment and follow up Journal of inherited metabolic disease 42 (1), 5-28, 2019
5-) Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease Human mutation 31 (12), E1894-E1914, 2010