Roberto Giugliani

Roberto Giugliani

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Roberto Giugliani

Roberto Giugliani

Publications by authors named "Roberto Giugliani"

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Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene.

Mol Neurobiol 2019 Sep 28;56(9):6426-6435. Epub 2019 Feb 28.

Laboratório de Identificação Genética, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1007/s12035-019-1528-zDOI Listing
September 2019

The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease.

Mol Genet Metab Rep 2019 Sep 19;20:100494. Epub 2019 Jul 19.

Medical Genetics Service, HCPA and Department of Genetics, UFRGS, Porto Alegre, Brazil.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6656697PMC
September 2019

Clinical research challenges in rare genetic diseases in Brazil.

Genet Mol Biol 2019 3;42(1 suppl 1):305-311. Epub 2019 Jun 3.

Clinical Research Group in Medical Genetics, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1590/1678-4685-GMB-2018-0174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687354PMC
June 2019

Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases.

Genet Mol Biol 2019 23;42(1 suppl 1):261-285. Epub 2019 May 23.

Gene Therapy Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S
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http://dx.doi.org/10.1590/1678-4685-GMB-2018-0100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687348PMC
May 2019

Medical Genetics - Special issue dedicated to the 35th anniversary of the Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil.

Genet Mol Biol 2019 11;42(1 suppl 1):153-154. Epub 2019 Apr 11.

Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil.

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http://dx.doi.org/10.1590/1678-4685-GMB-2019-00040001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687343PMC
April 2019

Aortic root dilatation in patients with mucopolysaccharidoses and the impact of enzyme replacement therapy.

Heart Vessels 2019 Feb 22;34(2):290-295. Epub 2018 Aug 22.

Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, Brazil.

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http://dx.doi.org/10.1007/s00380-018-1242-1DOI Listing
February 2019

A consensus statement on birth defects surveillance, prevention, and care in Latin America and the Caribbean.

Rev Panam Salud Publica 2019 14;43:e2. Epub 2019 Feb 14.

Pan American Health Organization/World Health Organization Pan American Health Organization/World Health Organization Women's and Reproductive Health Latin American Center for Perinatology Montevideo Uruguay Latin American Center for Perinatology, Women's and Reproductive Health, Pan American Health Organization/World Health Organization, Montevideo, Uruguay.

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http://dx.doi.org/10.26633/RPSP.2019.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6419921PMC
February 2019

CRISPR-Cas9-mediated gene editing in human MPS I fibroblasts.

Gene 2018 Dec 3;678:33-37. Epub 2018 Aug 3.

Gene Therapy Center, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Post-Graduation Program on Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2018.08.004DOI Listing
December 2018

Hunter syndrome: Long-term idursulfase treatment does not protect patients against DNA oxidation and cytogenetic damage.

Mutat Res Genet Toxicol Environ Mutagen 2018 Nov 31;835:21-24. Epub 2018 Aug 31.

Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Instituto de Ciências Básicas da Saúde, UFRGS, R. Ramiro Barcelos, 2600, CEP 90035-003, Porto Alegre, RS, Brazil; Serviço de Genética Médica, HCPA, R. Ramiro Barcelos, 2350, CEP 90050-903, Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1016/j.mrgentox.2018.08.013DOI Listing
November 2018

In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 system.

J Control Release 2018 10 28;288:23-33. Epub 2018 Aug 28.

Centro de Terapia Gênica do Hospital de Clinicas de Porto Alegre, R. Ramiro Barcelos 2350, 90035-903 Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Fisiologia da Universidade Federal do Rio Grande do Sul (UFRGS), Instituto de Ciências Básicas da Saúde, R. Sarmento Leite, 500, 90035-190 Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Genética e Biologia Molecular da Universidade Federal do Rio Grande do Sul (UFRGS), Departamento de Genética, Campus do Vale, Av. Bento Gonçalves, 9500, 91501-970 Porto Alegre, RS, Brazil. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01683659183049
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http://dx.doi.org/10.1016/j.jconrel.2018.08.031DOI Listing
October 2018

Recent advances in molecular testing to improve early diagnosis in children with mucopolysaccharidoses.

Expert Rev Mol Diagn 2018 10 26;18(10):855-866. Epub 2018 Sep 26.

a Medical Genetics Service , HCPA , Porto Alegre , RS , Brazil.

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http://dx.doi.org/10.1080/14737159.2018.1523722DOI Listing
October 2018

Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis.

Mol Genet Metab 2018 09 17;125(1-2):44-52. Epub 2018 May 17.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan; Department of Pediatrics, Shimane University, Shimane, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.04.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175648PMC
September 2018

Spinal cord issues in adult patients with MPS: transition of care survey.

Childs Nerv Syst 2018 09 27;34(9):1759-1765. Epub 2018 May 27.

UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.

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http://link.springer.com/10.1007/s00381-018-3834-6
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http://dx.doi.org/10.1007/s00381-018-3834-6DOI Listing
September 2018

Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients.

JIMD Rep 2018 12;41:119-129. Epub 2018 Jul 12.

Department of Pediatrics, Stony Brook University School of Medicine, Stony Brook, NY, USA.

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http://dx.doi.org/10.1007/8904_2018_120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122055PMC
July 2018

Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil.

Genet Mol Biol 2018 Apr./Jun;41(2):414-416. Epub 2018 Jun 4.

Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1590/1678-4685-GMB-2017-0227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082237PMC
June 2018

Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.

Int J Dev Neurosci 2018 May 29;66:18-23. Epub 2017 Nov 29.

Departamento de Análises, Faculdade de Farmácia, UFRGS, Avenida Ipiranga, 2752, CEP 90610-000, Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Ciências Biológicas, Bioquímica, UFRGS, Rua Ramiro Barcelos, 2600, CEP 90035-003, Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Ciências Farmacêuticas, UFRGS, Av. Ipiranga, 2752, CEP 90610-000, Porto Alegre, RS, Brazil; Serviço de Genética Médica, HCPA, Rua Ramiro Barcelos, 2350, CEP 90035-003, Porto Alegre, RS, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.ijdevneu.2017.11.007DOI Listing
May 2018

Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events.

Mol Genet Metab Rep 2018 Mar 9;14:31-35. Epub 2017 Nov 9.

Medical Genetics Service HCPA/Department of Genetics UFRGS and INAGEMP, Porto Alegre, Brazil.

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http://dx.doi.org/10.1016/j.ymgmr.2017.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5684503PMC
March 2018

Investigation of correlation of urinary globotriaosylceramide (Gb3) levels with markers of renal function in patients with Fabry disease.

Clin Chim Acta 2018 Mar 21;478:62-67. Epub 2017 Dec 21.

Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil; Curso de Especialização em Análises Clínicas, Faculdade de Farmácia, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Ciências Farmacêuticas, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.12.033DOI Listing
March 2018

Simple and efficient screening of patients with Fabry disease with high resolution melting.

Clin Biochem 2018 Mar 4;53:160-163. Epub 2018 Jan 4.

Post-Graduation Program on Genetics and Molecular Biology, UFRGS, Porto Alegre, RS 91501-970, Brazil; Gene Therapy Center, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS 90035-903, Brazil; Department of Genetics, UFRGS, Porto Alegre, RS 91501-970, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.clinbiochem.2018.01.002DOI Listing
March 2018

A simple protocol for transfecting human mesenchymal stem cells.

Biotechnol Lett 2018 Mar 17;40(3):617-622. Epub 2018 Jan 17.

Gene Therapy Center, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, RS, 90035-903, Brazil.

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http://dx.doi.org/10.1007/s10529-018-2505-8DOI Listing
March 2018

Cathepsin B inhibition attenuates cardiovascular pathology in mucopolysaccharidosis I mice.

Life Sci 2018 Mar 31;196:102-109. Epub 2018 Jan 31.

Gene Therapy Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Post-Graduation Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, Brazil; Post-Graduation Program in Physiology, UFRGS, Porto Alegre, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.lfs.2018.01.020DOI Listing
March 2018

Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).

Am J Med Genet A 2018 02 6;176(2):301-310. Epub 2017 Dec 6.

Rare Metabolic Disease Unit, Pediatric Department, Fondazione MBBM, San Gerardo Hospital, Monza, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.38551
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http://dx.doi.org/10.1002/ajmg.a.38551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814921PMC
February 2018

Gene editing of MPS I human fibroblasts by co-delivery of a CRISPR/Cas9 plasmid and a donor oligonucleotide using nanoemulsions as nonviral carriers.

Eur J Pharm Biopharm 2018 Jan 6;122:158-166. Epub 2017 Nov 6.

Programa de Pós-Graduação em Ciências Farmacêuticas da Universidade Federal do Rio Grande do Sul (UFRGS), Faculdade de Farmácia, Av. Ipiranga 2752, 90610-000 Porto Alegre, RS, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.ejpb.2017.10.017DOI Listing
January 2018

Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS.

Lancet Child Adolesc Health 2018 01 24;2(1):56-68. Epub 2017 Oct 24.

Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Postgraduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

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http://dx.doi.org/10.1016/S2352-4642(17)30087-1DOI Listing
January 2018

Phase I and II clinical trials for the mucopolysaccharidoses.

Expert Opin Investig Drugs 2017 Dec 31;26(12):1331-1340. Epub 2017 Oct 31.

a Postgraduate Program in Genetics and Molecular Biology , UFRGS , Porto Alegre , Brazil.

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http://dx.doi.org/10.1080/13543784.2017.1397130DOI Listing
December 2017

Treatment of brain disease in the mucopolysaccharidoses.

Mol Genet Metab 2017 12 16;122S:25-34. Epub 2017 Oct 16.

Department of Genetics, UFRGS & Medical Genetics Service, HCPA, INAGEMP, Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1016/j.ymgme.2017.10.007DOI Listing
December 2017

Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II.

Biol Blood Marrow Transplant 2017 Oct 1;23(10):1795-1803. Epub 2017 Jul 1.

Department of Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware; Department of Pediatrics, Shimane University, Shimane, Japan; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania. Electronic address:

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http://dx.doi.org/10.1016/j.bbmt.2017.06.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659208PMC
October 2017

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

Genet Med 2017 09 13;19(9):967-974. Epub 2017 Apr 13.

Department of Pediatrics Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York, USA.

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http://dx.doi.org/10.1038/gim.2017.7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589980PMC
September 2017

Diagnosing Mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity.

J Diabetes Metab Disord 2017 8;16:37. Epub 2017 Sep 8.

Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.

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http://dx.doi.org/10.1186/s40200-017-0319-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591505PMC
September 2017

Hydrocephalus and mucopolysaccharidoses: what do we know and what do we not know?

Childs Nerv Syst 2017 Jul 7;33(7):1073-1080. Epub 2017 Jun 7.

Post-Graduate Course in Medical Sciences, UFRGS, Porto Alegre, RS, 90035-003, Brazil.

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http://dx.doi.org/10.1007/s00381-017-3476-0DOI Listing
July 2017

Epidemiology of mucopolysaccharidoses.

Mol Genet Metab 2017 07 26;121(3):227-240. Epub 2017 May 26.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Pediatrics, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.05.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5653283PMC
July 2017

Newborn Screening for Pompe Disease.

Pediatrics 2017 Jul;140(Suppl 1):S4-S13

Medical Genetics Service, Hospital de Clinicas de Porto Alegre (HCPA) and Department of Genetics, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.

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http://dx.doi.org/10.1542/peds.2016-0280CDOI Listing
July 2017

Globotriaosylsphingosine induces oxidative DNA damage in cultured kidney cells.

Nephrology (Carlton) 2017 Jun;22(6):490-493

Graduate Program in Biological Sciences: Biochemistry, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1111/nep.12977DOI Listing
June 2017

Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).

Mol Genet Metab Rep 2017 Jun 3;11:62-64. Epub 2017 May 3.

Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Department of Genetics/UFRGS and INAGEMP, Porto Alegre, Brazil.

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http://dx.doi.org/10.1016/j.ymgmr.2017.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5426030PMC
June 2017

Losartan improves aortic dilatation and cardiovascular disease in mucopolysaccharidosis I.

J Inherit Metab Dis 2017 05 3;40(3):311-312. Epub 2017 Feb 3.

Gene Therapy Center, Hospital de Clínicas de Porto Alegre, Ramiro Barcelos, 2350, 90035-903, Porto Alegre, Brazil.

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http://dx.doi.org/10.1007/s10545-017-0014-xDOI Listing
May 2017

Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome.

Orphanet J Rare Dis 2017 04 26;12(1):78. Epub 2017 Apr 26.

Genetic Metabolic Disorders Service, Sydney Childrens' Hospital Network, Westmead, NSW, Australia.

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http://dx.doi.org/10.1186/s13023-017-0633-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5405472PMC
April 2017

Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses.

Mol Genet Metab 2017 03 22;120(3):247-254. Epub 2016 Dec 22.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346460PMC
March 2017

Oxidative damage and redox in Lysosomal Storage Disorders: Biochemical markers.

Clin Chim Acta 2017 Mar 9;466:46-53. Epub 2017 Jan 9.

Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, UFRGS, Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Ciências Farmacêuticas, UFRGS, Porto Alegre, RS, Brazil; Serviço de Genética Médica, HCPA, Porto Alegre, RS, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.01.007DOI Listing
March 2017

Progressive heart disease in mucopolysaccharidosis type I mice may be mediated by increased cathepsin B activity.

Cardiovasc Pathol 2017 Mar - Apr;27:45-50. Epub 2017 Jan 6.

Gene Therapy Center-Hospital de Clinicas de Porto Alegre, RS, Brazil; Post-Graduation Program in Genetics and Molecular Biology, UFRGS, RS, Brazil.

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http://dx.doi.org/10.1016/j.carpath.2017.01.001DOI Listing
March 2017

Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory.

Genet Mol Biol 2017 Jan-Mar;40(1):31-39. Epub 2017 Mar 16.

Medical Genetics Service, Hospital das Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1590/1678-4685-GMB-2016-0268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409780PMC
March 2017

Emerging drugs for the treatment of mucopolysaccharidoses.

Expert Opin Emerg Drugs 2016 9;21(1):9-26. Epub 2016 Jan 9.

d Post-Graduate Program in Genetics and Molecular Biology , Universidade Federal do Rio Grande do Sul , Porto Alegre , Brazil.

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http://dx.doi.org/10.1517/14728214.2016.1123690DOI Listing
October 2016

Deleterious effects of interruption followed by reintroduction of enzyme replacement therapy on a lysosomal storage disorder.

Transl Res 2016 10 5;176:29-37.e1. Epub 2016 Jul 5.

Centro de Terapia Gênica- HCPA, Porto Alegre, Brazil; Programa de Pós-Graduação em Genética e Biologia Molecular, UFRGS, Porto Alegre, Brazil; Programa de Pós-Graduação em Ciência Biológicas: Fisiologia, UFRGS, Porto Alegre, Brazil.

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http://dx.doi.org/10.1016/j.trsl.2016.05.002DOI Listing
October 2016

Biomolecules damage and redox status abnormalities in Fabry patients before and during enzyme replacement therapy.

Clin Chim Acta 2016 Oct 22;461:41-6. Epub 2016 Jul 22.

Programa de Pós-Graduação em Ciências Biológicas:Bioquímica, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Ciências Farmacêuticas, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2016.07.016DOI Listing
October 2016

Oxidative and nitrative stress and pro-inflammatory cytokines in Mucopolysaccharidosis type II patients: effect of long-term enzyme replacement therapy and relation with glycosaminoglycan accumulation.

Biochim Biophys Acta 2016 09 29;1862(9):1608-16. Epub 2016 May 29.

Programa de Pós-Graduação em Ciências Farmacêuticas, Faculdade de Farmácia, UFRGS, Av. Ipiranga, 2752, CEP 90610-000 Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Instituto de Ciências Básicas da Saúde, UFRGS, R. Ramiro Barcelos, 2600, CEP 90035-003 Porto Alegre, RS, Brazil; Serviço de Genética Médica, HCPA, R. Ramiro Barcelos, 2350, CEP 90035-003 Porto Alegre, RS, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2016.05.021DOI Listing
September 2016

Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study.

Arq Bras Cardiol 2016 Sep;107(3):257-265

Instituto de Biociências - Universidade Federal do Rio Grande do Sul, Unidade de Análise de Moléculas e Proteínas - Hospital de Clínicas de Porto Alegre, RS - Brazil.

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http://dx.doi.org/10.5935/abc.20160133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5053194PMC
September 2016

Polymorphisms in CYP19A1 and NFKB1 genes are associated with cutaneous melanoma risk in southern Brazilian patients.

Melanoma Res 2016 08;26(4):348-53

aDepartment of Dermatology, Hospital de Clínicas de Porto Alegre (HCPA) bDepartment of Genetics, Universidade Federal do Rio Grande do Sul (UFRGS), Experimental Research Center and Medical Genetics Service, HCPA cPostgraduate Program in Medical Sciences dDepartment of Statistics, UFRGS, Porto Alegre eLaboratory of Human and Medical Genetics, Universidade Federal do Pará (UFPA), Belém, Brazil.

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http://dx.doi.org/10.1097/CMR.0000000000000267DOI Listing
August 2016

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

N Engl J Med 2016 Aug;375(6):545-55

From the Division of Medical Genetics, University of Versailles, Paris-Saclay University, Versailles, and Assistance Publique-Hôpitaux de Paris, Paris - both in France (D.P.G.); the Department of Academic Haematology, Royal Free and University College Medical School, London (D.A.H.), Salford Royal NHS Foundation Trust, Salford (A.J.), and University of Sunderland, Sunderland (S.W.) - all in the United Kingdom; the Department of Nephrology, Royal Melbourne Hospital, Parkville, VIC (K. Nicholls), and the Metabolic Clinic, Women's and Children's Hospital, Adelaide, SA (D.B.) - both in Australia; the Clinical Research Division, Hôpital du Sacré-Coeur, Montreal (D.G.B.); Medical Genetics Service, Clinic Hospital of Porto Alegre, Porto Alegre (R.G.), and Hospital das Clínicas Faculdade de Medicina da Universidade de São Paulo-Ribeirão Preto, Ribeirão Preto (C.M.L.) - both in Brazil; the Departments of Human Genetics (W.R.W., S.P.S.) and Ophthalmology (S.P.S.), Emory University School of Medicine, Atlanta; the Dermatology Unit, University of Parma, Parma, Italy (C.F.); the Faculty of Medicine, Department and Laboratory of Pediatric Metabolic Disorders, Gazi University, Ankara, Turkey (F.E.); the Department of Pediatrics, Hospital Alemán, Buenos Aires (H.A.); the Department of Medical Endocrinology, Rigshospital, Copenhagen University Hospital, Copenhagen (U.F.-R.); Infusion Associates, Grand Rapids, MI (K. Nedd); the Faculty of Medicine, Kasr El Ainy Hospital, Cairo (U.S.E.D.); New York Presbyterian Hospital, New York (M.B.); the Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, and Northwestern University Feinberg School of Medicine, Chicago (J. Charrow); the Department of Urology, University of Kansas Medical Center, Kansas City (M.D., A.T.); Children's Hospital of Pittsburgh, Pittsburgh (D.F.); Hospital Miguel Servet, Zaragoza (P.G.), and Fundacio Puigvert, Universidad Autónoma de Barcelona, Barcelona (R.T.) - both in Spain; O & O Alpa

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http://dx.doi.org/10.1056/NEJMoa1510198DOI Listing
August 2016

Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism.

Orphanet J Rare Dis 2016 06 10;11(1):76. Epub 2016 Jun 10.

Laboratório de Genômica Clínica da Faculdade de Medicina and Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.

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http://dx.doi.org/10.1186/s13023-016-0458-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4901491PMC
June 2016

The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).

Mol Genet Metab 2016 Apr 25;117(4):438-46. Epub 2016 Jan 25.

Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, 2525 Chicago Ave South, CSC 560, Minneapolis, MN 55404, USA; Department of Pediatrics, Division of Genetics, University of Minnesota, Minneapolis, MN 55455, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.01.009DOI Listing
April 2016

Encapsulated Whole Bone Marrow Cells Improve Survival in Wistar Rats after 90% Partial Hepatectomy.

Stem Cells Int 2016 16;2016:4831524. Epub 2015 Nov 16.

Gene Therapy Center, Hospital de Clínicas de Porto Alegre, Ramiro Barcelos 2350, 90035-903 Porto Alegre, RS, Brazil ; Post-Graduation Program on Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil ; Post-Graduation Program in Surgery, Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4663362PMC
December 2015