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Items: 1 to 50 of 463

1.

Clinical findings in Brazilian patients with adult GM1 gangliosidosis.

Giugliani L, Steiner CE, Kim CA, Lourenço CM, Santos MLSF, de Souza CFM, Brusius-Facchin AC, Baldo G, Riegel M, Giugliani R.

JIMD Rep. 2019 Jul 17;49(1):96-106. doi: 10.1002/jmd2.12067. eCollection 2019 Sep.

2.

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

Schiffmann R, Bichet DG, Benjamin E, Wu X, Giugliani R.

Mol Genet Metab Rep. 2019 Jul 19;20:100494. doi: 10.1016/j.ymgmr.2019.100494. eCollection 2019 Sep. No abstract available.

3.

Corrigendum to Universal newborn screening: A roadmap for action molecular genetics and metabolism 124 (2018) 177-183.

Howson CP, Cedergren B, Giugliani R, Huhtinen P, Padilla CD, Palubiak CS, Santos MD, Schwartz IVD, Therrell BL, Umemoto A, Wang J, Zeng X, Zhao X, Zhong N, McCabe ERB.

Mol Genet Metab. 2019 Jul;127(3):216-217. doi: 10.1016/j.ymgme.2019.04.009. Epub 2019 Jun 20. No abstract available.

PMID:
31230977
4.

Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.

Martins C, de Medeiros PFV, Leistner-Segal S, Dridi L, Elcioglu N, Wood J, Behnam M, Noyan B, Lacerda L, Geraghty MT, Labuda D, Giugliani R, Pshezhetsky AV.

Hum Mutat. 2019 Aug;40(8):1084-1100. doi: 10.1002/humu.23752. Epub 2019 Jun 22.

PMID:
31228227
5.

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.

Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer J, Okuyama T, Orchard PJ, Stevens B, Thomas S, Walker R, Wynn R, Giugliani R, Harmatz P, Hendriksz C, Scarpa M; MPS Consensus Programme Steering Committee; MPS Consensus Programme Co-Chairs.

Orphanet J Rare Dis. 2019 Jun 13;14(1):137. doi: 10.1186/s13023-019-1074-9.

6.

Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.

Clarke LA, Giugliani R, Guffon N, Jones SA, Keenan HA, Munoz-Rojas MV, Okuyama T, Viskochil D, Whitley CB, Wijburg FA, Muenzer J.

Clin Genet. 2019 Oct;96(4):281-289. doi: 10.1111/cge.13583. Epub 2019 Jul 2.

PMID:
31194252
7.

Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases.

Vieira TA, Trapp FB, Souza CFM, Faccini LS, Jardim LB, Schwartz IVD, Riegel M, Vargas CR, Burin MG, Leistner-Segal S, Ashton-Prolla P, Giugliani R.

Genet Mol Biol. 2019;42(1 suppl 1):155-164. doi: 10.1590/1678-4685-GMB-2018-0214. Epub 2019 Jun 10.

8.

Clinical research challenges in rare genetic diseases in Brazil.

Giugliani L, Vanzella C, Zambrano MB, Donis KC, Wallau TKW, Costa FMD, Giugliani R.

Genet Mol Biol. 2019;42(1 suppl 1):305-311. doi: 10.1590/1678-4685-GMB-2018-0174. Epub 2019 Jun 3.

9.

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.

Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer J, Okuyama T, Orchard PJ, Stevens B, Thomas S, Walker R, Wynn R, Giugliani R, Harmatz P, Hendriksz C, Scarpa M; MPS Consensus Programme Steering Committee; MPS Consensus Programme Co-Chairs.

Orphanet J Rare Dis. 2019 May 29;14(1):118. doi: 10.1186/s13023-019-1080-y.

10.

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

Poletto E, Pasqualim G, Giugliani R, Matte U, Baldo G.

Genet Mol Biol. 2019;42(1 suppl 1):261-285. doi: 10.1590/1678-4685-GMB-2018-0100. Epub 2019 May 23.

11.

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

Zarante I, Hurtado-Villa P, Walani SR, Kancherla V, López Camelo J, Giugliani R, Groisman B, Howson CP, Durán P.

Rev Panam Salud Publica. 2019 Feb 14;43:e2. doi: 10.26633/RPSP.2019.2. eCollection 2019.

12.

Lysosomal diseases: Overview on current diagnosis and treatment.

Poswar FO, Vairo F, Burin M, Michelin-Tirelli K, Brusius-Facchin AC, Kubaski F, Souza CFM, Baldo G, Giugliani R.

Genet Mol Biol. 2019;42(1 suppl 1):165-177. doi: 10.1590/1678-4685-GMB-2018-0159. Epub 2019 Apr 25.

13.

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

Giugliani R.

Genet Mol Biol. 2019;42(1 suppl 1):153-154. doi: 10.1590/1678-4685-GMB-2019-00040001. Epub 2019 Apr 11. No abstract available.

14.

Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart.

Brusius-Facchin AC, Siebert M, Leão D, Malaga DR, Pasqualim G, Trapp F, Matte U, Giugliani R, Leistner-Segal S.

Genet Mol Biol. 2019;42(1 suppl 1):207-214. doi: 10.1590/1678-4685-GMB-2018-0102. Epub 2019 Apr 11.

15.

Population medical genetics: translating science to the community.

Giugliani R, Bender F, Couto R, Bochernitsan A, Brusius-Facchin AC, Burin M, Amorim T, Acosta AX, Purificação A, Leistner-Segal S, Saraiva-Pereira ML, Jardim LB, Matte U, Riegel M, Cardoso-Dos-Santos AC, Rodrigues G, Oliveira MZ, Tagliani-Ribeiro A, Heck S, Dresch V, Schuler-Faccini L, Kubaski F.

Genet Mol Biol. 2019;42(1 suppl 1):312-320. doi: 10.1590/1678-4685-GMB-2018-0096. Epub 2019 Apr 11.

16.

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.

Málaga DR, Brusius-Facchin AC, Siebert M, Pasqualim G, Saraiva-Pereira ML, Souza CFM, Schwartz IVD, Matte U, Giugliani R.

Genet Mol Biol. 2019;42(1 suppl 1):197-206. doi: 10.1590/1678-4685-GMB-2018-0092. Epub 2019 Apr 11.

17.

Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study.

Hughes DA, Nicholls K, Sunder-Plassmann G, Jovanovic A, Feldt-Rasmussen U, Schiffmann R, Giugliani R, Jain V, Viereck C, Castelli JP, Skuban N, Barth JA, Bichet DG.

Am J Med Genet A. 2019 Jun;179(6):1069-1073. doi: 10.1002/ajmg.a.61105. Epub 2019 Mar 28. No abstract available.

18.

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

Polese-Bonatto M, Bock H, Farias ACS, Mergener R, Matte MC, Gil MS, Nepomuceno F, Souza FTS, Gus R, Giugliani R, Saraiva-Pereira ML.

Mol Neurobiol. 2019 Sep;56(9):6426-6435. doi: 10.1007/s12035-019-1528-z. Epub 2019 Feb 28.

PMID:
30820861
19.

Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.

Germain DP, Nicholls K, Giugliani R, Bichet DG, Hughes DA, Barisoni LM, Colvin RB, Jennette JC, Skuban N, Castelli JP, Benjamin E, Barth JA, Viereck C.

Genet Med. 2019 Sep;21(9):1987-1997. doi: 10.1038/s41436-019-0451-z. Epub 2019 Feb 6.

20.

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD).

Wasserstein M, Dionisi-Vici C, Giugliani R, Hwu WL, Lidove O, Lukacs Z, Mengel E, Mistry PK, Schuchman EH, McGovern M.

Mol Genet Metab. 2019 Feb;126(2):98-105. doi: 10.1016/j.ymgme.2018.11.014. Epub 2018 Nov 29. Review.

21.

Evaluating enzyme replacement therapies for Anderson-Fabry disease: commentary on a recent report.

Giugliani R, Westwood S, Wellhoefer H, Schenk J, Gurevich A, Kampmann C.

Genet Mol Biol. 2018 Oct-Dec;41(4):790-793. doi: 10.1590/1678-4685-GMB-2017-0345. Epub 2018 Oct 11.

22.

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

Diaz Jacques CE, de Souza HM, Sperotto NDM, Veríssimo RM, da Rosa HT, Moura DJ, Saffi J, Giugliani R, Vargas CR.

Mutat Res Genet Toxicol Environ Mutagen. 2018 Nov;835:21-24. doi: 10.1016/j.mrgentox.2018.08.013. Epub 2018 Aug 31.

PMID:
30249478
23.

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

Brusius-Facchin AC, Rojas Malaga D, Leistner-Segal S, Giugliani R.

Expert Rev Mol Diagn. 2018 Oct;18(10):855-866. doi: 10.1080/14737159.2018.1523722. Epub 2018 Sep 26. Review.

PMID:
30222014
24.

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

Schuh RS, Poletto É, Pasqualim G, Tavares AMV, Meyer FS, Gonzalez EA, Giugliani R, Matte U, Teixeira HF, Baldo G.

J Control Release. 2018 Oct 28;288:23-33. doi: 10.1016/j.jconrel.2018.08.031. Epub 2018 Aug 28.

PMID:
30170069
25.

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

Giugliani R, Vairo F, Kubaski F, Poswar F, Riegel M, Baldo G, Saute JA.

Lancet Child Adolesc Health. 2018 Jan;2(1):56-68. doi: 10.1016/S2352-4642(17)30087-1. Epub 2017 Oct 24. Review. Erratum in: Lancet Child Adolesc Health. 2018 Jan;2(1):e1.

PMID:
30169196
26.

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

Poswar FO, de Souza CFM, Giugliani R, Baldo G.

Heart Vessels. 2019 Feb;34(2):290-295. doi: 10.1007/s00380-018-1242-1. Epub 2018 Aug 22.

PMID:
30136169
27.

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

de Carvalho TG, Schuh R, Pasqualim G, Pellenz FM, Filippi-Chiela EC, Giugliani R, Baldo G, Matte U.

Gene. 2018 Dec 15;678:33-37. doi: 10.1016/j.gene.2018.08.004. Epub 2018 Aug 3.

PMID:
30081189
28.

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

Cox GF, Clarke LA, Giugliani R, McGovern MM.

JIMD Rep. 2018;41:119-129. doi: 10.1007/8904_2018_120. Epub 2018 Jul 12.

29.

Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial.

Giugliani R, Giugliani L, de Oliveira Poswar F, Donis KC, Corte AD, Schmidt M, Boado RJ, Nestrasil I, Nguyen C, Chen S, Pardridge WM.

Orphanet J Rare Dis. 2018 Jul 5;13(1):110. doi: 10.1186/s13023-018-0849-8.

30.

Universal newborn screening: A roadmap for action.

Howson CP, Cedergren B, Giugliani R, Huhtinen P, Padilla CD, Palubiak CS, Santos MD, Schwartz IVD, Therrell BL, Umemoto A, Wang J, Zeng X, Zhao X, Zhong N, McCabe ERB.

Mol Genet Metab. 2018 Jul;124(3):177-183. doi: 10.1016/j.ymgme.2018.04.009. Epub 2018 Apr 25. Erratum in: Mol Genet Metab. 2019 Jul;127(3):216-217.

PMID:
29884465
31.

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

Camargo Neto E, Schulte J, Pereira J, Bravo H, Sampaio-Filho C, Giugliani R.

Genet Mol Biol. 2018 Apr./Jun;41(2):414-416. doi: 10.1590/1678-4685-GMB-2017-0227. Epub 2018 Jun 4.

32.

A novel LC-MS/MS assay to quantify dermatan sulfate in cerebrospinal fluid as a biomarker for mucopolysaccharidosis II.

Pan P, Chen M, Zhang Z, Corte AD, Souza C, Giugliani R, Pan L, Qiu Y, Amaravadi L, Wu J.

Bioanalysis. 2018 Jun 1;10(11):825-838. doi: 10.4155/bio-2018-0025. Epub 2018 Jun 4.

PMID:
29863901
33.

Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders.

Hendriksz CJ, Harmatz P, Giugliani R, Roberts J, Arul GS.

Mol Genet Metab Rep. 2018 Mar 7;15:71-73. doi: 10.1016/j.ymgmr.2018.02.007. eCollection 2018 Jun.

34.

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

Ghotme KA, Alvarado-Gomez F, Lampe C, White KK, Solano-Villareal M, Giugliani R, Harmatz PR.

Childs Nerv Syst. 2018 Sep;34(9):1759-1765. doi: 10.1007/s00381-018-3834-6. Epub 2018 May 27.

PMID:
29804213
35.

Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis.

Khan SA, Mason RW, Giugliani R, Orii K, Fukao T, Suzuki Y, Yamaguchi S, Kobayashi H, Orii T, Tomatsu S.

Mol Genet Metab. 2018 Sep;125(1-2):44-52. doi: 10.1016/j.ymgme.2018.04.011. Epub 2018 May 17.

36.

Mucopolysaccharidosis VI and effects on growth of the apical bases: a case report.

Ferreira Dos Reis M, Pinheiro LR, Pinheiro MDGR, de Almeida HA, Feio PDSQ, de Almeida SC, de Souza ICN, Giugliani R, Schwartz IVD, Cavaleiro RMDS, Pinheiro JJV, da Silva LCS.

Spec Care Dentist. 2018 May;38(3):176-184. doi: 10.1111/scd.12290. Epub 2018 May 3.

PMID:
29722897
37.

Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial.

Schiffmann R, Bichet DG, Jovanovic A, Hughes DA, Giugliani R, Feldt-Rasmussen U, Shankar SP, Barisoni L, Colvin RB, Jennette JC, Holdbrook F, Mulberg A, Castelli JP, Skuban N, Barth JA, Nicholls K.

Orphanet J Rare Dis. 2018 Apr 27;13(1):68. doi: 10.1186/s13023-018-0813-7.

38.

Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison.

Eisengart JB, Rudser KD, Xue Y, Orchard P, Miller W, Lund T, Van der Ploeg A, Mercer J, Jones S, Mengel KE, Gökce S, Guffon N, Giugliani R, de Souza CFM, Shapiro EG, Whitley CB.

Genet Med. 2018 Nov;20(11):1423-1429. doi: 10.1038/gim.2018.29. Epub 2018 Mar 8.

39.

Plasma Pharmacokinetics of Valanafusp Alpha, a Human Insulin Receptor Antibody-Iduronidase Fusion Protein, in Patients with Mucopolysaccharidosis Type I.

Pardridge WM, Boado RJ, Giugliani R, Schmidt M.

BioDrugs. 2018 Apr;32(2):169-176. doi: 10.1007/s40259-018-0264-7.

PMID:
29442294
40.

Worldwide distribution of common IDUA pathogenic variants.

Poletto E, Pasqualim G, Giugliani R, Matte U, Baldo G.

Clin Genet. 2018 Jul;94(1):95-102. doi: 10.1111/cge.13224. Epub 2018 Apr 11. Review.

PMID:
29393969
41.

Cathepsin B inhibition attenuates cardiovascular pathology in mucopolysaccharidosis I mice.

Gonzalez EA, Martins GR, Tavares AMV, Viegas M, Poletto E, Giugliani R, Matte U, Baldo G.

Life Sci. 2018 Mar 1;196:102-109. doi: 10.1016/j.lfs.2018.01.020. Epub 2018 Jan 31.

PMID:
29366749
42.

A simple protocol for transfecting human mesenchymal stem cells.

de Carvalho TG, Pellenz FM, Laureano A, da Rocha Silla LM, Giugliani R, Baldo G, Matte U.

Biotechnol Lett. 2018 Mar;40(3):617-622. doi: 10.1007/s10529-018-2505-8. Epub 2018 Jan 17.

PMID:
29344849
43.

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

Pasqualim G, Dos Santos BA, Giugliani R, Matte U.

Clin Biochem. 2018 Mar;53:160-163. doi: 10.1016/j.clinbiochem.2018.01.002. Epub 2018 Jan 4.

PMID:
29305833
44.

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

Moura AP, Hammerschmidt T, Deon M, Giugliani R, Vargas CR.

Clin Chim Acta. 2018 Mar;478:62-67. doi: 10.1016/j.cca.2017.12.033. Epub 2017 Dec 21.

45.

Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study.

Hendriksz CJ, Parini R, AlSayed MD, Raiman J, Giugliani R, Mitchell JJ, Burton BK, Guelbert N, Stewart FJ, Hughes DA, Matousek R, Hawley SM, Decker C, Harmatz PR.

Mol Genet Metab. 2018 Feb;123(2):127-134. doi: 10.1016/j.ymgme.2017.11.015. Epub 2017 Dec 5.

46.

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

Ficicioglu C, Giugliani R, Harmatz P, Mendelsohn NJ, Jego V, Parini R.

Am J Med Genet A. 2018 Feb;176(2):301-310. doi: 10.1002/ajmg.a.38551. Epub 2017 Dec 6.

47.

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

Hammerschmidt TG, de Oliveira Schmitt Ribas G, Saraiva-Pereira ML, Bonatto MP, Kessler RG, Souza FTS, Trapp F, Michelin-Tirelli K, Burin MG, Giugliani R, Vargas CR.

Int J Dev Neurosci. 2018 May;66:18-23. doi: 10.1016/j.ijdevneu.2017.11.007. Epub 2017 Nov 29.

PMID:
29197565
48.

Newborn Screening for Pompe Disease.

Bodamer OA, Scott CR, Giugliani R; Pompe Disease Newborn Screening Working Group.

Pediatrics. 2017 Jul;140(Suppl 1):S4-S13. doi: 10.1542/peds.2016-0280C.

49.

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

Beck M, Hughes D, Kampmann C, Pintos-Morell G, Ramaswami U, West ML, Giugliani R.

Mol Genet Metab Rep. 2017 Nov 9;14:31-35. doi: 10.1016/j.ymgmr.2017.10.008. eCollection 2018 Mar.

50.

Treatment of brain disease in the mucopolysaccharidoses.

Scarpa M, Orchard PJ, Schulz A, Dickson PI, Haskins ME, Escolar ML, Giugliani R.

Mol Genet Metab. 2017 Dec;122S:25-34. doi: 10.1016/j.ymgme.2017.10.007. Epub 2017 Oct 16. Review.

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