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C

Carolina Fischinger Moura de Souza

hospital de clinicas de porto alegre
H指数:27
被引数:2,360

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荣誉奖项

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Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa

DTX401 AAV基因疗法治疗GSDIa的III期随机试验结果

Journal of Inherited Metabolic Disease
IF3.8
2026-09-060
OAAI
John J. Mitchell; Jose E. Abdenur; Foekje de Boer; Monica Boyer; Margo Sheck Breilyn; María-Luz Couce; Diva D. De Leon; Terry G. Derks; Areeg El-Gharbawy; Andrea B. Haijer-Schreuder; Karen Loechner; Nicola Longo; Allan M. Lund; Miguel Angel Martinez Olmos; Shawn E. McCandless; Bibiana Mello de Oliveira; Malaya Mount; Nicole Muschol; Kristina Pytlak; Kadakkal Radhakrishnan; Rebecca Riba-Wolman; David F. Rodriguez-Buritica; Alessandro La Rosa; Alessandro Rossi; Heather Saavedra; René Santer; Brian Shayota; G. Peter A. Smit; Carolina F. Moura De Souza; Melanie M. van der Klauw; David A. Weinstein; Joseph I. Wolfsdorf; Anne Blake; Andrew A. Grimm; Deepali Mitragotri; Syeda Rahman; Diane M. Turner-Bowker; Richard Collis
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
Clinical and genetic features of Classic Galactosemia in the south of Brazil

巴西南部经典半乳糖血症的临床与遗传特征

Molecular Genetics and Metabolism
IF3.5
2025-06-090
PRE
Leonardo Simão Medeiros; Lucas Ferreira Teixeira; Alexandra Gomes; Isabel Rivera; Cláudia Fernandes Lorea; Lilia Farret; Kristiane Michelin Tirelli; Fernanda Medeiros Sebastião; Fernanda Bender Pasetto; Carolina Fischinger Moura de Souza; Fabiano de Oliveira Poswar; Raquel Borges Pinto; Mariana Marcano-Ruiz; Fernanda Sperb-Ludwig; Sandra Maria Vieira; Lavínia Schuler-Faccini; Ida Vanessa Doederlein Schwartz
Novel variants in the SOX11 gene: clinical description of seven new patients
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-09-271
PRE
Schincariol-Manhe, Beatriz; Campagnolo, Erica; Spineli-Silva, Samira; de Leeuw, Nicole; Correia-Costa, Gabriela Roldao; Pessoa, Andre; de Souza, Carolina Fischinger Moura; Stevens, Cathy; Javaher, Poupak; Scallet, Helena Fabbri; Mohr, Julia; Biskup, Saskia; Herkert, Johanna C.; Pfundt, Rolph; Mehta, Lakshmi; Rekab, Aisha; Elloumi, Houda Zghal; Sanyoura, May; Maciel-Guerra, Andrea Trevas; Gil-da-Silva-Lopes, Vera Lucia; dos Santos, Ana Mondadori; Vieira, Tarsis Paiva
Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing

通过大规模并行测序对巴西患者的枫糖浆尿液疾病进行诊断

MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-09-010
PRE
Tresbach, Rafael Hencke; Sperb-Ludwig, Fernanda; Ligabue-Braun, Rodrigo; de Bitencourt, Fernanda Hendges; Tonon, Tassia; de Souza, Carolina Fischinger Moura; Poswar, Fabiano de Oliveira; Leite, Maria Efigenia de Queiroz; Amorim, Tatiana; Porta, Gilda; Neto, Joao Seda; Miura, Irene Kazumi; Steiner, Carlos Eduardo; Martins, Ana Maria; Pessoa, Andre Luiz Santos; Ribeiro, Erlane Marques; Schwartz, Ida Vanessa Doederlein
General overview of urea cycle disorders (UCDs) in Brazil
MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-04-010
PRE
Doederlein Schwartz, Ida Vanessa; dos Santos, Mariana Lopes; Fink, Isabela Alicia; Hendges de Bitencourt, Fernanda Fernanda; Sperb-Ludwig, Fernanda; Refosco, Lilia Farret; de Souza, Carolina Fischinger Moura; Poswar, Fabiano Oliveira; Vieira, Marta Wey; Moretzsohn, Monica; Curiati, Marco Antonio; Schmitz Ferreira Santos, Mara Lucia; do Valle, Daniel Almeida; Menezes, Ana Cecilia; Baptista Arpini, Luana da Silva; Heredia, Romina Soledad; Santana da Silva, Luiz Carlos; de Camargo Pinto, Louise Lapagesse; Giuliani, Liane de Rosso; Araujo Felix Adjuto, Giselle Maria
A Brazilian patient with late infantile metachromatic leukodystrophy treated with lentiviral hematopoietic stem-cell gene therapy: A report from prenatal diagnosis to early treatment
MOLECULAR GENETICS AND METABOLISM
IF3.5
2023-02-010
PRE
Faqueti, Larissa; Iop, Gabrielle; Lemos da Silva, Layzon Antonio; Kubaski, Francyne; Borges, Henrique B. L.; Oliveira Netto, Alice Brinckmann; Brusius-Facchin, Ana C.; Leistner-Segal, Sandra; Gus, Rejane; Sanseverino, Maria Teresa V.; Michelin-Tirelli, Kristiane; Pasetto, Fernanda Bender; Sebastiao, Fernanda Medeiros; Silva, Thiago Oliveira; Azevedo Magalhaes, Jose Antonio; Moura de Souza, Carolina Fischinger; Recupero, Salvatore; Calbi, Valeria; Fumagalli, Francesca; Aiuti, Alessandro; Giugliani, Roberto

研究方向

暂未获取到该数据
R
Roberto Giugliani
H 指数:80论文数:1,417被引数:2.4万
I
Ida Vanessa Döederlein Schwartz
H 指数:46论文数:613被引数:7,703
F
Filippo Pinto e Vairo
H 指数:29论文数:293被引数:2,899
F
Fernanda Sperb‐Ludwig
H 指数:14论文数:79被引数:520
L
Lı́lia Farret Refosco
H 指数:8论文数:73被引数:275
A
Ana María Martins
H 指数:26论文数:219被引数:2,405
F
Fabiano de Oliveira Poswar
H 指数:16论文数:109被引数:927
T
Terry G. J. Derks
H 指数:33论文数:205被引数:3,641
B
Bibiana Mello de Oliveira
H 指数:7论文数:42被引数:169
C
Charles Marques Lourenço
H 指数:47论文数:308被引数:1.1万