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R

Roberto Giugliani

hospital de clinicas de porto alegre
H指数:80
被引数:2.4万

个人简介

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教育背景

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工作经历

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荣誉奖项

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The p.Ala1035Val variant in Niemann–Pick type C1: Clinical and molecular characterization in Brazilian and Portuguese patients suggests a shared founder effect

Niemann–Pick C1型病中的p.Ala1035Val变异：巴西和葡萄牙患者的临床及分子特征表明存在共同的奠基者效应

Molecular Genetics and Metabolism
IF3.5
2026-04-010
PRE
Ana Paula Alegretti; Tatiane Hammerschmidt; Isaura Ribeiro; Dulce Quelhas; Márcia Polese-Bonatto; Maria Luiza Saraiva-Pereira; Esmeralda Martins; Roberto Giugliani; Marisa Encarnação; Sandra Alves; Carmen Regla Vargas
Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network

揭示巴西黏多糖贮积症IIIC型：通过MPS Brazil网络识别的巴西患者的诊断历程与临床特征

Diseases 2026, Vol. 14, Page 5
IF3
2025-12-270
OAAI
Yorran Hardman Araújo Montenegro; Maria Fernanda Antero Alves; Simone Silva dos Santos-Lopes; Carolina Fischinger Moura de Souza; Fabiano de Oliveira Poswar; Ana Carolina Brusius-Facchin; Fernanda Bender-Pasetto; Kristiane Michelin-Tirelli; Fernanda Medeiros Sebastião; Franciele Barbosa Trapp; Erlane Marques Ribeiro; Paula Frassinetti Vasconcelos de Medeiros; Chong Ae Kim; Emilia Katiane Embiraçu; Mariluce Riegel-Giugliani; Guilherme Baldo; Roberto Giugliani
Long-term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey

α-半乳糖苷酶A治疗法布里病成年患者的长期有效性与安全性结局：法布里结局登记研究20年数据

European Journal of Clinical Investigation
IF3.6
2025-11-060
OAAI
Derralynn A. Hughes; Guillem Pintos-Morell; Christoph Kampmann; Christina Anagnostopoulou; Jaco Botha; Siddharth Jain; Kathleen Nicholls; Dau-Ming Niu; Ricardo Reisin; Michael L. West; Jörn Schenk; Uma Ramaswami; Roberto Giugliani
Clinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the hunter outcome survey

黏多糖贮积症II型患者18年临床特征与真实世界结局：Hunter结局调查最终报告

Molecular Genetics and Metabolism
IF3.5
2025-11-020
PRE
Joseph Muenzer; Jaco Botha; Hernan Amartino; Roberto Giugliani; Paul Harmatz; Christoph Kampmann; Bianca Link; Shuan-Pei Lin; David Molter; Julian Raiman; Maurizio Scarpa; Anna Tylki-Szymańska; Siddharth Jain; David A.H. Whiteman; Barbara K. Burton
Venglustat in GM2 Gangliosidoses and Related Disorders: Results of the AMETHIST Randomized Controlled and Basket Trials

维格鲁斯塔特在GM2神经节苷脂贮积症及相关疾病中的应用：AMETHIST随机对照试验和篮式试验的结果

Genetics in Medicine
IF6.2
2025-10-150
OAAI
Cynthia J. Tifft; Isabela Batsu; Roberto Giugliani; Harmonie Goyeau; Andreas Hahn; Simon A. Jones; Pascal Minini; Ichiro Nakashima; Mar O’Callaghan; Susan Perlman; Nathan Thibault; Madhurima Uppara Kowthalam; Riliang Zheng; Timothy M. Cox
Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador

厄瓜多尔一例黏多糖贮积症IIIB簇的全面表征

Diagnostics 2025, Vol. 15, Page 2337
IF3.3
2025-09-300
OAAI
María Lucía Castro Moreira; Yorran Hardman Araújo Montenegro; Angélica Salatino-Oliveira; Héctor Quintero Montano; Rodolfo F. Niz Bareiro; Simone Silva dos Santos-Lopes; Thiago Ramos da Silva; Lucas Kelvy Sales Azevedo; Karyme Beatrice Lourenço da Silva; Affonso Weslley de Almeida Moreira; Suzany Silva Araujo; Francyne Kubaski; Franciele Barbosa Trapp; Ana Carolina Brusius-Facchin; Fernanda Medeiros Sebastião; Kristiane Michelin-Tirelli; Guilherme Baldo; Roberto Giugliani; Durval Palhares
Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency

奥利普酶α酶替代治疗在酸鞘磷脂酶缺乏症儿童和青少年中的长期安全性与临床结局

Journal of Inherited Metabolic Disease
IF3.8
2025-09-120
PREAI
Maurizio Scarpa; George A. Diaz; Roberto Giugliani; Simon A. Jones; Eugen Mengel; Nathalie Guffon; Peter Witters; Jaya Ganesh; Nicole M. Armstrong; Shruti Srivastava; Yong Kim
Newborn Intravenous Injection of Liposomal CRISPR/Cas9 Complex Has No Incidence of Off-Targets or Tumors in Mice

新生小鼠经静脉注射脂质体CRISPR/Cas9复合物的实验中，未观察到脱靶效应或肿瘤发生。

PHARMACEUTICS
IF5.5
2025-05-170
OA
Monteagudo, Vinicius; Flores, Larissa Cristina Barbosa; Lopes, Melaine; Fachel, Flavia Nathiely Silveira; Martins, Giselle; Siebert, Marina; Carniel, Willian da Silva; Garcez, Tuane Nerissa Alves; Teixeira, Helder Ferreira; Matte, Ursula; Giugliani, Roberto; Baldo, Guilherme; Poletto, Edina; Schuh, Roselena Silvestri
Analysis of genomic ancestry and characterization of a new variant in MPS type VII
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2025-04-250
OAAI
da Costa, Andreza Juliana Moreira; de Souza, Isabel Cristina Neves; Feio, Raimunda Helena; Viana, Laurent Ketlen Leao; Cisz, Mislene; Rafaelli, Celio Luiz; Trapp, Franciele Barbosa; Burin, Maira Graeff; Michelin-Tirelli, Kristiane; Brusius-Facchin, Ana Carolina; Netto, Alice Brinckmann Oliveira; Khayat, Andre Salim; dos Santos, Ney Pereira Carneiro; Giugliani, Roberto; Santana-da-Silva, Luiz Carlos

研究方向

暂未获取到该数据
P
Paul Harmatz
H 指数:65论文数:532被引数:1.4万
M
Maurizio Scarpa
H 指数:52论文数:343被引数:9,128
F
Francyne Kubaski
H 指数:28论文数:151被引数:2,180
G
Guilherme Baldo
H 指数:24论文数:225被引数:1,812
Ú
Úrsula da Silveira Matte
H 指数:34论文数:549被引数:3,973
D
Derralynn Hughes
H 指数:74论文数:665被引数:1.8万
J
Joseph Muenzer
H 指数:48论文数:238被引数:9,600
A
Ana Carolina Brusius‐Facchin
H 指数:16论文数:104被引数:703
S
Simon Jones
H 指数:59论文数:502被引数:1.0万
M
Maira Graeff Burin
H 指数:25论文数:192被引数:1,831