List of works by Barbara Tappino

A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy

scientific article published on 16 November 2018

A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child

scientific article

Concentration-dependent metabolic effects of metformin in healthy and Fanconi anemia lymphoblast cells.

scientific article

Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.

scientific article

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.

scientific article published on 29 September 2010

Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation

scientific article

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations

scientific article published on 13 April 2019

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