Agata Fiumara

Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

Sarah B. Pierce, Tom Walsh, Karen M. Chisholm et al. · The American Journal of Human Genetics · 2010 · 255 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

DPM2‐CDG: A muscular dystrophy–dystroglycanopathy syndrome with severe epilepsy

Rita Barone, Chiara Aiello, Valérie Race et al. · Annals of Neurology · 2012 · 149 citations

Autism and Phenylketonuria

Sabrina Baieli, Concetta Meli, Agata Fiumara et al. · Journal of Autism and Developmental Disorders · 2003 · 129 citations

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

Barbara Tappino, Roberta Biancheri, Matthew Mort et al. · Human Mutation · 2010 · 116 citations · Full text

Molecular Diagnostic Techniques, Somatic Variant, Mendelian Disorder +14

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia

Luisa Sturiale, Rita Barone, Agata Fiumara et al. · Glycobiology · 2005 · 114 citations