Federica Lanza

Genoa, Italy

Last Updated: 09/26/2026

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Found 8 publications

Five-year experience of a combined newborn screening for spinal muscular atrophy and severe combined immunodeficiency in Liguria, Italy.

Five-year experience of a combined newborn screening for spinal muscular atrophy and severe combined immunodeficiency in Liguria, Italy.

Journal: European journal of human genetics : EJHG

Published: December 10, 2025

Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia.

Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia.

Journal: Scientific reports

Published: October 26, 2020

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.

Journal: Human molecular genetics

Published: April 14, 2020

Defective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher Disease.

Defective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher Disease.

Journal: The journal of allergy and clinical immunology. In practice

Published: February 05, 2020

MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease.

MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease.

Journal: Molecular genetics and metabolism

Published: August 16, 2016

Validity of β-D-glucosidase activity measured in dried blood samples for detection of potential Gaucher disease patients.

Validity of β-D-glucosidase activity measured in dried blood samples for detection of potential Gaucher disease patients.

Journal: Clinical biochemistry

Published: January 20, 2014

A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers.

A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers.

Journal: Neurogenetics

Published: December 09, 2013

Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.

Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.

Journal: European journal of human genetics : EJHG

Published: June 07, 2012

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Last Updated: 09/26/2026