Generoso Andria

Generoso Andria

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Generoso Andria

Generoso Andria

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[Cardiologists and mucopolysaccharidoses. Recommendations of GICEM (Cardiology Experts on Metabolic Disease Italian Group) for diagnosis, follow-up and cardiological management].

G Ital Cardiol (Rome) 2017 Sep;18(9):638-649

U.O. Cardiologia Pediatrica e U.O. di Riabilitazione e Scompenso Cardiaco, Ospedale Monaldi, A.O. dei Colli, Dipartimento di Scienze Cardio-Toraciche e Respiratorie, Seconda Università degli Studi, Napoli - GICEM Core Writers Cardiologi.

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http://dx.doi.org/10.1714/2741.27947DOI Listing
September 2017

Lysosomal storage diseases: from pathophysiology to therapy.

Annu Rev Med 2015 ;66:471-86

Telethon Institute of Genetics and Medicine, Pozzuoli 80078, Italy.

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http://dx.doi.org/10.1146/annurev-med-122313-085916DOI Listing
September 2015

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Pediatr Radiol 2015 Jul 3;45(7):965-76. Epub 2015 Feb 3.

Genetic Department, Referral Centre for Developmental Abnormalities, Femme-Mère-Enfant Hospital, Hospices Civils de Lyon, 59 boulevard Pinel, 69677, Bron cedex, France.

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http://link.springer.com/content/pdf/10.1007/s00247-014-3257
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http://link.springer.com/10.1007/s00247-014-3257-9
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http://dx.doi.org/10.1007/s00247-014-3257-9DOI Listing
July 2015

Hyperhomocysteinemia: related genetic diseases and congenital defects, abnormal DNA methylation and newborn screening issues.

Mol Genet Metab 2014 Sep-Oct;113(1-2):27-33. Epub 2014 Jul 21.

Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2014.07.016DOI Listing
June 2015

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

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.

Eur J Hum Genet 2014 Aug 8;22(8):988-94. Epub 2014 Jan 8.

1] Telethon Institute of Genetics and Medicine, Naples, Italy [2] Department of Translational Medicine, Federico II University of Naples, Naples, Italy.

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http://dx.doi.org/10.1038/ejhg.2013.283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3984901PMC
August 2014

Pharmacological chaperone therapy for lysosomal storage diseases.

Future Med Chem 2014 Jun;6(9):1031-45

Telethon Institute of Genetics & Medicine, Naples, Italy.

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http://dx.doi.org/10.4155/fmc.14.40DOI Listing
June 2014

Mitochondrial DNA methylation as a next-generation biomarker and diagnostic tool.

Mol Genet Metab 2013 Sep-Oct;110(1-2):25-34. Epub 2013 Jul 19.

Department of Biosciences, Biotechnology and Pharmacological Sciences, University of Bari, via Orabona 4, 70125 Bari, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2013.07.012DOI Listing
March 2014

Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene.

Gene 2014 Mar 15;538(1):69-73. Epub 2014 Jan 15.

Department of Translational Medical Sciences, Division of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1016/j.gene.2014.01.017DOI Listing
March 2014

Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity.

Ital J Pediatr 2014 Mar 19;40(1):30. Epub 2014 Mar 19.

Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via S, Pansini 5, 80131 Naples, Italy.

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http://dx.doi.org/10.1186/1824-7288-40-30DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3974180PMC
March 2014

Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and agalsidase alpha in cultured fibroblasts from patients with Fabry disease.

J Inherit Metab Dis 2014 Jan 22;37(1):145-6. Epub 2013 Aug 22.

Department of Public Health, Section of Nephrology, University of Naples Federico II, Naples, Italy.

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http://dx.doi.org/10.1007/s10545-013-9641-zDOI Listing
January 2014

Child neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder.

Neurology 2014 Jan;82(1):e1-4

From the Departments of Pediatrics (G.T., N.B.-P., G.P., A.R., G.A.) and Molecular Medicine and Medical Biotechnologies (M.R., G.F.), University of Naples Federico II; CEINGE-Biotecnologie Avanzate s.c.ar.l. (M.R., C.C., E.S., F.S., G.F.); and IRCCS-Fondazione SDN (F.S.), Naples, Italy.

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http://www.neurology.org/content/82/1/e1.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/01.wnl.0000438217.3
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http://dx.doi.org/10.1212/01.wnl.0000438217.31437.72DOI Listing
January 2014

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene.

BMC Med Genet 2014 Jan 28;15:15. Epub 2014 Jan 28.

Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy.

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http://dx.doi.org/10.1186/1471-2350-15-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925134PMC
January 2014

Respiratory manifestations in patients with inherited metabolic diseases.

Eur Respir Rev 2013 Dec;22(130):437-53

Dept of Paediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1183/09059180.00008012DOI Listing
December 2013

Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency.

Adv Ther 2013 Mar 20;30(3):212-28. Epub 2013 Feb 20.

Reference Center for Neonatal Screening and Diagnosis for Metabolic Diseases of University-Istituto Giannina Gaslini, Via 5 maggio, 3916147 Genoa, Italy.

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http://link.springer.com/10.1007/s12325-013-0011-x
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http://dx.doi.org/10.1007/s12325-013-0011-xDOI Listing
March 2013

Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy.

JIMD Rep 2013 30;9:113-116. Epub 2012 Oct 30.

Department of Paediatrics, University of Naples Federico II, Via s. Pansini, 5, 80131, Naples, Italy.

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http://dx.doi.org/10.1007/8904_2012_188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565674PMC
February 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

Universal screening for inherited metabolic diseases in the neonate (and the fetus).

J Matern Fetal Neonatal Med 2012 Oct;25(Suppl 5):4-6

Department of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.3109/14767058.2012.716983DOI Listing
October 2012

Isovaleric acidemia.

J Pediatr Endocrinol Metab 2011 ;24(5-6):399

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August 2011

Pompe disease: from new views on pathophysiology to innovative therapeutic strategies.

Curr Pharm Biotechnol 2011 Jun;12(6):902-15

Department of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.2174/138920111795542606DOI Listing
June 2011

Impairment of methyl cycle affects mitochondrial methyl availability and glutathione level in Down's syndrome.

Mol Genet Metab 2011 Mar 9;102(3):378-82. Epub 2010 Dec 9.

Department of Chemistry, University of Basilicata, 85100 Potenza, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2010.11.166DOI Listing
March 2011

Lysinuric protein intolerance: reviewing concepts on a multisystem disease.

Am J Med Genet C Semin Med Genet 2011 Feb 9;157C(1):54-62. Epub 2011 Feb 9.

Department of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.c.30287DOI Listing
February 2011

Chronic diarrhea in mucopolysaccharidosis IIIB.

J Pediatr Gastroenterol Nutr 2009 Oct;49(4):477-80

Department of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1097/MPG.0b013e31818a082aDOI Listing
October 2009

Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman.

Am J Med Genet A 2008 Feb;146A(3):327-9

Department of Cardiology, Monaldi Hospital, Second University of Naples, Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32149DOI Listing
February 2008

Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.

Hum Mutat 2008 Jan;29(1):14-21

Department of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1002/humu.20589DOI Listing
January 2008

Clinical phenotype of lathosterolosis.

Am J Med Genet A 2007 Oct;143A(20):2371-81

Dipartimento di Pediatria, Federico II University, Naples, Italy, and Department of Radiology, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.31929DOI Listing
October 2007

Accumulation of altered aspartyl residues in erythrocyte proteins from patients with Down's syndrome.

FEBS J 2007 Oct 24;274(20):5263-77. Epub 2007 Sep 24.

Department of Biochemistry and Biophysics, School of Medicine, Second University of Naples, Italy.

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http://dx.doi.org/10.1111/j.1742-4658.2007.06048.xDOI Listing
October 2007

Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins.

Clin Dysmorphol 2006 Jan;15(1):13-8

Department of Pediatrics, Federico II University, Naples, Italy.

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January 2006

Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.

Eur J Pediatr 2005 Aug 19;164(8):501-8. Epub 2005 May 19.

Dipartimento di Pediatria, Università Federico II, Via Sergio Pansini 5, 80131 Napoli, Italy.

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http://dx.doi.org/10.1007/s00431-005-1657-4DOI Listing
August 2005

Health implications of homocysteine and folates: possible preventive measures.

Nutr Metab Cardiovasc Dis 2005 Apr 14;15(2):87-93. Epub 2005 Apr 14.

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http://dx.doi.org/10.1016/j.numecd.2005.02.003DOI Listing
April 2005

Study of multimodal evoked potentials in patients with type 1 Gaucher's disease.

J Child Neurol 2005 Feb;20(2):124-8

Department of Neurological Sciences, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1177/08830738050200020801DOI Listing
February 2005

Therapeutic goals in the treatment of Gaucher disease.

Semin Hematol 2004 Oct;41(4 Suppl 5):4-14

Neurology in Pediatrics, Neurgenetics Unit, Department of Neurology, New York University School of Medicine, NY, USA.

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October 2004

[Frequency of the mutation 677C-T of methylenetetrahydrofolate reductase gene on a sample of 652 Spanish liveborn infants].

Med Clin (Barc) 2004 Mar;122(10):361-4

ECEMC, CIAC, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, España.

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http://dx.doi.org/10.1016/s0025-7753(04)74243-8DOI Listing
March 2004

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.

Eur J Pediatr 2004 Feb 16;163(2):58-66. Epub 2003 Dec 16.

Division and Program in Human Genetics, Children's Hospital Research Foundation, Cincinnati, OH 45229-3039, USA.

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http://dx.doi.org/10.1007/s00431-003-1362-0DOI Listing
February 2004

Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring.

Eur J Pediatr 2004 Feb 16;163(2):67-75. Epub 2003 Dec 16.

Unidad de Enfermedades Metabólicas, Hospital Infantil Miguel Servet, Po. Isabel la Católica, 350009 Zaragoza, Spain.

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http://dx.doi.org/10.1007/s00431-003-1363-zDOI Listing
February 2004

A new patient with Lowry-Wood syndrome with mild phenotype.

Am J Med Genet A 2003 Apr;118A(1):68-70

Department of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.20008DOI Listing
April 2003