Publications by authors named "Annalisa Madeo"

11Publications

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

Authors:
Maurizio Miano Annalisa Madeo Enrico Cappelli Federica Lanza Tiziana Lanza Marina Stroppiano Paola Terranova Roberta Venè Jack J H Bleesing Maja Di Rocco

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

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.

Authors:
Silvia Morlino Lucia Micale Marco Ritelli Marianne Rohrbach Nicoletta Zoppi Anthony Vandersteen Sara Mackay Emanuele Agolini Dario Cocciadiferro Erina Sasaki Annalisa Madeo Alessandro Ferraris Willie Reardon Maja Di Rocco Antonio Novelli Paola Grammatico Fransiska Malfait Tommaso Mazza Alan Hakim Cecilia Giunta Marina Colombi Marco Castori

Clin Genet 2020 03 12;97(3):396-406. Epub 2019 Dec 12.

Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy.

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March 2020

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

Authors:
Annalisa Madeo Maja Di Rocco Anaïs Brassier Nadia Bahi-Buisson Pascale De Lonlay Irène Ceballos-Picot

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.

Authors:
Cinzia Galimberti Annalisa Madeo Maja Di Rocco Agata Fiumara

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.

Authors:
Maja Di Rocco Livia Pisciotta Annalisa Madeo Marta Bertamino Stefano Bertolini

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

Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.

Authors:
Deborah Chiabrando Marco Castori Maja di Rocco Martin Ungelenk Sebastian Gießelmann Matteo Di Capua Annalisa Madeo Paola Grammatico Sophie Bartsch Christian A Hübner Fiorella Altruda Lorenzo Silengo Emanuela Tolosano Ingo Kurth

PLoS Genet 2016 Dec 6;12(12):e1006461. Epub 2016 Dec 6.

Institute of Human Genetics, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany.

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December 2016

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

Authors:
Annalisa Madeo Alberto Garaventa Angela Rita Sementa Chiara Suffia Maja Di Rocco

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.

Authors:
Maja Di Rocco Rita Barone Annalisa Madeo Agata Fiumara

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.

Authors:
Stefano Giardino Edoardo Lanino Giuseppe Morreale Annalisa Madeo Maja Di Rocco Marco Gattorno Maura Faraci

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

Whole-body MRI in the assessment of disease activity in juvenile dermatomyositis.

Authors:
Clara Malattia Maria Beatrice Damasio Annalisa Madeo Angela Pistorio Anna Providenti Silvia Pederzoli Stefania Viola Antonella Buoncompagni Chiara Mattiuz Agnese Beltramo Alessandro Consolaro Angelo Ravelli Nicolino Ruperto Paolo Picco Gian Michele Magnano Alberto Martini

Ann Rheum Dis 2014 Jun 1;73(6):1083-90. Epub 2013 May 1.

Pediatria II, Istituto Giannina Gaslini, , Genova, Italy.

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June 2014

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

Authors:
Maja Di Rocco Andrea Dardis Annalisa Madeo Rita Barone Agata Fiumara

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