Barbara Tappino
0000-0002-5971-0926
Publication & Citation Trends
Publications
0 total
GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia OA
Cited by 6
Semantic Scholar
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213 OA
Cited by 6
Semantic Scholar
Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia OA
Cited by 2
Semantic Scholar
Assessing Health-Related Quality of Life in Children with Coeliac Disease: The Italian Version of CDDUX OA
Cited by 10
Semantic Scholar
Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia OA
Cited by 22
Semantic Scholar
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations OA
Cited by 57
Semantic Scholar
Concentration‐dependent metabolic effects of metformin in healthy and Fanconi anemia lymphoblast cells
Cited by 26
Semantic Scholar
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy OA
Cited by 14
Semantic Scholar
A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child
Cited by 8
Semantic Scholar
Cell Line and DNA Biobank From Patients Affected by Genetic Diseases OA
Cited by 49
Semantic Scholar
Research Topics
Lysosomal Storage Disorders Research
(14)
Cellular transport and secretion
(8)
Calcium signaling and nucleotide metabolism
(8)
Carbohydrate Chemistry and Synthesis
(3)
Trypanosoma species research and implications
(3)
Affiliations
Istituto Giannina Gaslini
Istituto di Genetica Molecolare
Istituti di Ricovero e Cura a Carattere Scientifico