Publications by authors named "Annalisa Madeo"

11Publications

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

J Allergy Clin Immunol Pract 2020 Nov - Dec;8(10):3535-3542. Epub 2020 Jul 21.

Unit of Rare Diseases, Department of Pediatrics, Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Giannina Gaslini, Genoa, Italy. Electronic address:

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July 2020

Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.

Mol Genet Metab 2019 06 3;127(2):147-157. Epub 2019 Jun 3.

Metabolic Biochemistry Laboratory, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France.

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June 2019

Mucopolysaccharidoses: early diagnostic signs in infants and children.

Ital J Pediatr 2018 Nov 16;44(Suppl 2):133. Epub 2018 Nov 16.

Regional Referral Centre for Metabolic Diseases, Pediatric Clinic, Department of Clinical and Experimental Medicine, University of Catania, AOU Policlinico VE, Via Santa Sofia 78, 95123, Catania, Italy.

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November 2018

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

Orphanet J Rare Dis 2018 01 27;13(1):24. Epub 2018 Jan 27.

Department of Internal Medicine, University of Genoa, Viale Benedetto XV 6, 16132, Genoa, Italy.

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January 2018

The unusual association between Neuroblastoma and Gaucher Disease: Case report and review of the literature.

Blood Cells Mol Dis 2018 02 23;68:106-108. Epub 2016 Nov 23.

Unit of Rare Diseases, Department of Pediatrics, G. Gaslini Institute, Genoa, Italy.

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February 2018

Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease.

Pediatr Neurol 2015 Oct 8;53(4):e15. Epub 2015 Jul 8.

Regional Referral Center for Metabolic Diseases, Department of Pediatrics, University of Catania, Catania, Italy.

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October 2015

Long-term outcome of a successful cord blood stem cell transplant in mevalonate kinase deficiency.

Pediatrics 2015 Jan 22;135(1):e211-5. Epub 2014 Dec 22.

Stem Cell Transplantation Unit, Department of Pediatric Hematology and Oncology.

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January 2015

Early miglustat therapy in infantile Niemann-Pick disease type C.

Pediatr Neurol 2012 Jul;47(1):40-3

Unit of Rare Diseases, Department of Pediatrics, Gaslini Institute, Genoa, Italy.

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July 2012