Maja Di Rocco

Maja Di Rocco

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Maja Di Rocco

Publications by authors named "Maja Di Rocco"

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Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene.

Neuropediatrics 2019 Oct 18;50(5):327-331. Epub 2019 Jul 18.

Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Clinical and Surgical Neurosciences and Rehabilitation, IRCSS Istituto Giannina Gaslini, Genova, Italy.

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http://dx.doi.org/10.1055/s-0039-1692141DOI Listing
October 2019

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

Mol Genet Metab 2019 Jun 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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http://dx.doi.org/10.1016/j.ymgme.2019.06.001DOI Listing
June 2019

Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes.

Orphanet J Rare Dis 2019 05 3;14(1):98. Epub 2019 May 3.

Departments of Orthopaedic Surgery & Medicine, The Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1186/s13023-019-1068-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499994PMC
May 2019

Correction to: Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes.

Orphanet J Rare Dis 2019 May 23;14(1):113. Epub 2019 May 23.

Departments of Orthopaedic Surgery & Medicine, The Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1186/s13023-019-1096-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6532205PMC
May 2019

Allogeneic hematopoietic cell transplantation in Farber disease.

J Inherit Metab Dis 2019 Mar 27;42(2):286-294. Epub 2019 Feb 27.

Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1002/jimd.12043DOI Listing
March 2019

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.

Acta Paediatr 2018 12 23;107(12):2059-2065. Epub 2018 Oct 23.

Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.

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http://dx.doi.org/10.1111/apa.14587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282980PMC
December 2018

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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https://ijponline.biomedcentral.com/articles/10.1186/s13052-
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http://dx.doi.org/10.1186/s13052-018-0550-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238260PMC
November 2018

ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.

Eur J Paediatr Neurol 2018 Mar 31;22(2):264-271. Epub 2018 Jan 31.

Child Neuropsychiatry Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children's Sciences, Giannina Gaslini Institute, University of Genoa, Genoa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.01.010DOI Listing
March 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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http://dx.doi.org/10.1016/j.bcmd.2016.11.011DOI Listing
February 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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http://dx.doi.org/10.1186/s13023-018-0768-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5787265PMC
January 2018

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

Orphanet J Rare Dis 2017 06 12;12(1):110. Epub 2017 Jun 12.

Department of Orthopaedic Surgery, Center for Research in FOP & Related Disorders, The Perelman School of Medicine, The University of Pennsylvania, 3737 Market Street, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1186/s13023-017-0659-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5468985PMC
June 2017

Open issues in Mucopolysaccharidosis type I-Hurler.

Orphanet J Rare Dis 2017 06 15;12(1):112. Epub 2017 Jun 15.

Department for the Woman and Child Health, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1186/s13023-017-0662-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5472858PMC
June 2017

Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy.

Biochim Biophys Acta Mol Basis Dis 2017 02 1;1863(2):386-394. Epub 2016 Dec 1.

Institute of Medical Science, University of Toronto, Toronto M5G 1L7, Canada; Department of Medical Biophysics, University of Toronto, Toronto M5G 1L7, Canada; University Health Network, Toronto M5G 1L7, Canada; Medical College of Wisconsin, Milwaukee, WI 53226, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2016.11.031DOI Listing
February 2017

Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe.

Eur J Intern Med 2017 Jan 10;37:25-32. Epub 2016 Aug 10.

Department of Medicine, University of Cambridge, Box 157, Level 5, Addenbrooke's Hospital, Cambridge CB2 0QQ, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ejim.2016.07.011DOI Listing
January 2017

Standardization of MRI and Scintigraphic Scores for Assessing the Severity of Bone Marrow Involvement in Adult Patients With Type 1 Gaucher Disease.

AJR Am J Roentgenol 2016 Jun 8;206(6):1245-52. Epub 2016 Apr 8.

1 Department of Translational Research and Advanced Technologies in Medicine and Surgery, Regional Center of Nuclear Medicine, University of Pisa, Via Roma 67, Pisa I-56126, Italy.

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http://dx.doi.org/10.2214/AJR.15.15294DOI Listing
June 2016

Clinical Features of Lysosomal Acid Lipase Deficiency.

J Pediatr Gastroenterol Nutr 2015 Dec;61(6):619-25

*Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL †Department of Medicine, Addenbrooke's Hospital NHS Trust, Cambridge, UK ‡Medical Genetics Division, Stanford University, Stanford, CA §Department of Pediatrics, Regina Margherita Hospital, Turin, Italy ||Seattle Children's Hospital, Seattle, WA ¶Department of Vascular Medicine-Internal Medicine, Academic Medical Center, Amsterdam, The Netherlands #New York-Presbyterian/Columbia University Medical Center, New York, NY **Department of Pediatrics, First Faculty of Medicine, Charles University, Prague, Czech Republic ††Departement de l'Enfant et de l'Adolescent, Hopitaux Universitaires de Geneve, Geneva, Switzerland ‡‡Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada §§Department of Pediatrics, Unit of Rare Diseases, Gaslini Institute Genoa, Genova, Italy ||||Department of Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK ¶¶Department of Adult Inherited Metabolic Diseases, Salford Royal NHS Foundation, Salford, UK ##Screening Department, Institute of Mother and Child, Warsaw, Poland ***University of Minnesota, Minneapolis, MN †††Synageva BioPharma Corp, Lexington, MA ‡‡‡Hopital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1097/MPG.0000000000000935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4645959PMC
December 2015

New insights into central nervous system involvement in FOP: Case report and review of the literature.

Am J Med Genet A 2015 Nov 4;167A(11):2817-21. Epub 2015 Aug 4.

Giannina Gaslini Institute, Rare Diseases, Pediatric, Genoa, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37271DOI Listing
November 2015

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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http://dx.doi.org/10.1016/j.pediatrneurol.2015.06.017DOI Listing
October 2015

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.

N Engl J Med 2015 Sep;373(11):1010-20

From the Northwestern University Feinberg School of Medicine and the Ann and Robert H. Lurie Children's Hospital, Chicago (B.K.B.); Icahn School of Medicine, Mount Sinai, New York (M.B.), and Women and Children's Hospital of Buffalo, Buffalo (R.E.) - both in New York; Centre Hospitalier Universitaire Brabois-Hôpital d'Enfants, Vandoeuvre-lès-Nancy (F.F.), and University Hospital Necker-Enfants Malades and Imagine Institute, Paris (V.V.) - both in France; University Hospital Center Zagreb and University of Zagreb, School of Medicine, Zagreb, Croatia (I.B.); Cincinnati Children's Hospital Medical Center, Cincinnati (T.A.B.); Hospital Universitario La Paz, Madrid (C.C.G.); Ege University Medical Faculty, Izmir (M.C.), and Gazi University Medical Faculty, Ankara (F.E.) - both in Turkey; Hospital Infantil de México Federico Gómez, Mexico City (A.C.-S.); Cambridge University Hospitals, Cambridge, United Kingdom (P.D.); Unit of Rare Diseases, Department of Pediatrics, Gaslini Institute, Genoa (M.D.R.), and University of Padua, Padua (M.S.) - both in Italy; Stanford University, Palo Alto (G.M.E.), and University of California, San Francisco, San Francisco ( J.K.) - both in California; Children's Hospital of Philadelphia, Philadelphia (C.F.); Alfred I. duPont Hospital for Children, Wilmington, DE (K.N.F.); University of Arizona Cancer Center, Tucson (C.L.); Villa Metabolica, Center of Pediatric and Adolescent Medicine, University of Mainz, Mainz (E.M.), and University Hospital Freiburg, Freiburg (K.O.S.) - both in Germany; Boston Children's Hospital, Boston (E.G.N.), and Synageva BioPharma, Lexington (Y.Y., S.E., S.R.-C., A.G.Q.) - both in Massachusetts; John Hunter Children's Hospital, and Discipline of Paediatrics and Child Health, University of Newcastle, Newcastle, NSW (S.N.), Royal Children's Hospital, Parkville, VIC (H.P.), and Royal Brisbane and Women's Hospital, Brisbane, QLD (M.W.) - all in Australia; Faculty Hospital, Palacky University, Olomouc, Czech Republic

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http://dx.doi.org/10.1056/NEJMoa1501365DOI Listing
September 2015

Inferior olivary nucleus involvement in pediatric neurodegenerative disorders: does it play a role in neuroimaging pattern-recognition approach?

Neuropediatrics 2015 Apr 16;46(2):104-9. Epub 2015 Feb 16.

Child Neuropsychiatry Unit, Department of Neurosciences and Rehabilitation, Istituto G. Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1055/s-0035-1544185DOI Listing
April 2015

Erratum to: Management of Bone Disease in Gaucher Disease Type 1: Clinical Practice.

Adv Ther 2015 Apr;32(4):388-9

Division of Hematology, Department of Clinical and Molecular Biomedicine, University of Catania, Ospedale Ferrarotto, Catania, Italy.

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http://dx.doi.org/10.1007/s12325-015-0196-2DOI Listing
April 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 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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http://dx.doi.org/10.1542/peds.2014-2553DOI Listing
January 2015

Management of bone disease in Gaucher disease type 1: clinical practice.

Adv Ther 2014 Dec 17;31(12):1197-212. Epub 2014 Dec 17.

Division of Hematology, Department of Clinical and Molecular Biomedicine, University of Catania, Ospedale Ferrarotto, Catania, Italy.

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http://link.springer.com/content/pdf/10.1007/s12325-014-0174
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http://link.springer.com/10.1007/s12325-014-0174-0
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http://dx.doi.org/10.1007/s12325-014-0174-0DOI Listing
December 2014

Early diagnosis of Gaucher disease in pediatric patients: proposal for a diagnostic algorithm.

Pediatr Blood Cancer 2014 Nov 17;61(11):1905-9. Epub 2014 Aug 17.

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

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http://dx.doi.org/10.1002/pbc.25165DOI Listing
November 2014

Quality of life in adult patients with glycogen storage disease type I: results of a multicenter italian study.

JIMD Rep 2014 21;14:47-53. Epub 2013 Dec 21.

Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy,

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http://dx.doi.org/10.1007/8904_2013_283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213326PMC
October 2014

ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant.

Hum Mol Genet 2014 Oct 22;23(20):5364-77. Epub 2014 May 22.

Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany, Berlin Brandenburg School for Regenerative Therapies (BSRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany Research Group Development and Disease, Max-Planck-Institut für Molekulare Genetik, 14195 Berlin, Germany

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http://dx.doi.org/10.1093/hmg/ddu255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4168825PMC
October 2014

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.

Eur J Hum Genet 2014 Jun 9;22(6):741-7. Epub 2013 Oct 9.

1] Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, The Royal Children's Hospital, Flemington Road, Melbourne, VIC, Australia [2] Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1038/ejhg.2013.229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023207PMC
June 2014

Recurrent microdeletion 2q21.1: report on a new patient with neurological disorders.

Am J Med Genet A 2014 Mar 20;164A(3):801-5. Epub 2013 Dec 20.

Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.36357DOI Listing
March 2014

A rare 3q13.31 microdeletion including GAP43 and LSAMP genes.

Mol Cytogenet 2013 Nov 26;6(1):52. Epub 2013 Nov 26.

Laboratorio di Citogenetica, Istituto G, Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1186/1755-8166-6-52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3906914PMC
November 2013

Revised recommendations for the management of Gaucher disease in children.

Eur J Pediatr 2013 Apr 8;172(4):447-58. Epub 2012 Jul 8.

Children's Hospital of Philadelphia, University of Pennsylvania, 9th Floor, Colket Translational Research Building, Civic Center Blvd, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1007/s00431-012-1771-zDOI Listing
April 2013

Minimal disease activity in Gaucher disease: criteria for definition.

Mol Genet Metab 2012 Nov 17;107(3):521-5. Epub 2012 Aug 17.

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

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http://dx.doi.org/10.1016/j.ymgme.2012.08.009DOI Listing
November 2012

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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http://dx.doi.org/10.1016/j.pediatrneurol.2012.04.005DOI Listing
July 2012

Erythrocyte Galactose-1-phosphate measurement by GC-MS in the monitoring of classical galactosemia.

Scand J Clin Lab Invest 2012 Feb 21;72(1):29-33. Epub 2011 Oct 21.

U.O. Laboratorio Centrale di Analisi, Istituto G. Gaslini, Largo Gaslini 5, Genoa, Italy.

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http://www.tandfonline.com/doi/full/10.3109/00365513.2011.62
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http://dx.doi.org/10.3109/00365513.2011.622409DOI Listing
February 2012

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.

Nat Genet 2011 Dec 11;44(1):85-8. Epub 2011 Dec 11.

Département de Génétique, Unité INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1038/ng.1016DOI Listing
December 2011

Coxarthritis as the presenting symptom of Gaucher disease type 1.

Arthritis 2011 30;2011:361279. Epub 2011 Mar 30.

2nd Division of Paediatrics, G. Gaslini Institute, Largo Gaslini 5, 16129 Genova, Italy.

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http://dx.doi.org/10.1155/2011/361279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199935PMC
November 2011

Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene.

Mol Genet Metab 2009 Jun 26;97(2):143-8. Epub 2009 Feb 26.

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

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http://dx.doi.org/10.1016/j.ymgme.2009.02.007DOI Listing
June 2009

A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease.

Haematologica 2008 Aug 4;93(8):1211-8. Epub 2008 Jul 4.

Rare Disease Unit, II Division of Pediatrics, Gaslini Institute, Genova, Italy.

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http://dx.doi.org/10.3324/haematol.12379DOI Listing
August 2008

Clinical and genetic characterization of Chanarin-Dorfman syndrome.

Biochem Biophys Res Commun 2008 May 11;369(4):1125-8. Epub 2008 Mar 11.

Muscular and Neurodegenerative Disease Unit, Giannina Gaslini Institute, University of Genova, Genova, Italy.

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http://dx.doi.org/10.1016/j.bbrc.2008.03.010DOI Listing
May 2008

Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease.

Mol Genet Metab 2008 Apr 20;93(4):398-402. Epub 2008 Feb 20.

Unit of Rare Diseases, II Pediatric Division, Gaslini Institute, Largo Gaslini 5, 16147 Genoa, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2007.10.134DOI Listing
April 2008

Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes.

Am J Med Genet A 2007 Jun;143A(11):1169-73

SC Genetica Umana, Ospedale Galliera, Genova, and Istituto di Genetica Medica, Facoltà di Mediciina e Chirurgia, Policlinico A. Gemelli, UCSC, Roma, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.31723
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http://dx.doi.org/10.1002/ajmg.a.31723DOI Listing
June 2007

A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation.

Mol Genet Metab 2006 Dec 7;89(4):395-7. Epub 2006 Jul 7.

II Pediatric Unit, Gaslini Institute, Largo Gaslini 5, 16147 Genoa, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920600189
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http://dx.doi.org/10.1016/j.ymgme.2006.05.010DOI Listing
December 2006

Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients.

Curr Med Res Opin 2006 Jun;22(6):1045-64

Department of Internal Medicine, St Franziskus Hospital, Cologne, Germany.

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http://dx.doi.org/10.1185/030079906X104623DOI Listing
June 2006