Maja D. Di Rocco-Rocco

Via Gaslini 5
Genoa, Italy

Last Updated: 09/26/2026

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Found 13 publications

Long-term bone outcomes in Italian patients with Gaucher disease type 1 or type 3 treated with imiglucerase: A sub-study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

Long-term bone outcomes in Italian patients with Gaucher disease type 1 or type 3 treated with imiglucerase: A sub-study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

Journal: Blood cells, molecules & diseases

Published: July 18, 2022

Parkinson's disease in Gaucher disease patients: what's changing in the counseling and management of patients and their relatives?

Parkinson's disease in Gaucher disease patients: what's changing in the counseling and management of patients and their relatives?

Journal: Orphanet journal of rare diseases

Published: May 12, 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

Targeted re-sequencing in pediatric and perinatal stroke.

Targeted re-sequencing in pediatric and perinatal stroke.

Journal: European journal of medical genetics

Published: January 22, 2020

Self-reported baseline phenotypes from the International Fibrodysplasia Ossificans Progressiva (FOP) Association Global Registry.

Self-reported baseline phenotypes from the International Fibrodysplasia Ossificans Progressiva (FOP) Association Global Registry.

Journal: Bone

Published: January 09, 2020

Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern.

Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern.

Journal: Brain & development

Published: September 03, 2019

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.

Journal: Genes

Published: August 30, 2019

Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability.

Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability.

Journal: Journal of the neurological sciences

Published: September 16, 2018

Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency.

Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency.

Journal: Orphanet journal of rare diseases

Published: August 10, 2017

The FOP Connection Registry: Design of an international patient-sponsored registry for Fibrodysplasia Ossificans Progressiva.

The FOP Connection Registry: Design of an international patient-sponsored registry for Fibrodysplasia Ossificans Progressiva.

Journal: Bone

Published: June 25, 2017

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.

Journal: Molecular genetics and metabolism

Published: June 15, 2017

International physician survey on management of FOP: a modified Delphi study.

International physician survey on management of FOP: a modified Delphi study.

Journal: Orphanet journal of rare diseases

Published: February 28, 2017

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Last Updated: 09/26/2026