日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Reversible Metabolic and Liver Disease in Complex III Deficiency: Novel Variants Expand the Reported UQCRC2-Associated Phenotype

复合物 III 缺陷引起的可逆性代谢和肝脏疾病:新变异扩展了已报道的 UQCRC2 相关表型

Preston, Graeme; Shammas, Ibrahim; Pinto E Vairo, Filippo; Ligezka, Anna; Aschoff, Carlos Alberto de Moura; Poswar, Fabiano; Schwartz, Ida Vanessa D; Kozicz, Tamas; Morava, Eva

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

通过基因组、表型、功能、结构和深度学习整合,将甲状腺激素转运蛋白MCT8的变异与疾病严重程度联系起来。

Groeneweg, Stefan; van Geest, Ferdy S; Martín, Mariano; Dias, Mafalda; Frazer, Jonathan; Medina-Gomez, Carolina; Sterenborg, Rosalie B T M; Wang, Hao; Dolcetta-Capuzzo, Anna; de Rooij, Linda J; Teumer, Alexander; Abaci, Ayhan; van den Akker, Erica L T; Ambegaonkar, Gautam P; Armour, Christine M; Bacos, Iiuliu; Bakhtiani, Priyanka; Barca, Diana; Bauer, Andrew J; van den Berg, Sjoerd A A; van den Berge, Amanda; Bertini, Enrico; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Brunner, Doris; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; Chesover, Alexander; Christian, Peter; Coenen-van der Spek, Jet; de Coo, Irenaeus F M; Coutant, Regis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dremmen, Marjolein H G; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; Garibaldi, Luigi; George, Belinda; Gevers, Evelien F; Greenup, Erin; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Hurst, Anna C; Huynh, Tony; Isaza, Amber R; Klosowska, Anna; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Kulkarni, Abhishek; Laemmle, Alexander; LaFranchi, Stephen H; Lawson-Yuen, Amy; Lebl, Jan; Leeuwenburgh, Selmar; Linder-Lucht, Michaela; López Martí, Anna; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana Krenek; Mancilla, Edna E; McCormick, Kenneth L; McGowan, Anne; Mericq, Veronica; Lora, Felipe Monti; Moran, Carla; Muller, Katalin E; Nicol, Lindsey E; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Poswar, Fabiano O; Reinauer, Christina; Rozenkova, Klara; Seckold, Rowen; Seven Menevse, Tuba; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; Stals, Milou A M; Stegenga, Merel T; Stoupa, Athanasia; Subramanian, Gopinath M; Szeifert, Lilla; Tonduti, Davide; Turan, Serap; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; van Wermeskerken, Anne-Marie; Wierzba, Jolanta; de Wit, Marie-Claire Y; Wolf, Nicole I; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Rivadeneira, Fernando; Meima, Marcel E; Marks, Debora S; Nicola, Juan P; Chen, Chi-Hua; Medici, Marco; Visser, W Edward

Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network

揭示巴西粘多糖贮积症 IIIC 型:通过巴西粘多糖贮积症网络识别的巴西患者的诊断历程和临床特征

Montenegro, Yorran Hardman Araújo; Alves, Maria Fernanda Antero; Santos-Lopes, Simone Silva Dos; Souza, Carolina Fischinger Moura de; Poswar, Fabiano de Oliveira; Brusius-Facchin, Ana Carolina; Bender-Pasetto, Fernanda; Michelin-Tirelli, Kristiane; Sebastião, Fernanda Medeiros; Trapp, Franciele Barbosa; Ribeiro, Erlane Marques; Medeiros, Paula Frassinetti Vasconcelos de; Kim, Chong Ae; Embiraçu, Emilia Katiane; Riegel-Giugliani, Mariluce; Baldo, Guilherme; Giugliani, Roberto

Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis

一组被诊断为α-甘露糖苷贮积症的巴西患者的疾病特征

Poswar, Fabiano de Oliveira; Alves, Tamires Silva; de Carvalho, Daniel Rocha; van der Linden, Hélio Jr; Lourenço, Charles Marques; Horovitz, Dafne Dain Gandelman; Barth, Anneliese; Mendes, Carmen Silvia Curiati; Martins, Ana Maria; Giugliani, Roberto

A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report

SLC2A1基因中一种新的移码变异导致轻度GLUT1缺乏综合征表型:病例报告

Sobrinho, Lívia Maria Ferreira; Silva, Thiago Oliveira; Refosco, Lilia Farret; Poloni, Soraia; Poswar, Fabiano Oliveira; de Souza, Carolina Fischinger Moura; Sperb-Ludwig, Fernanda; Schwartz, Ida Vanessa Doederlein

Disease progression in Sanfilippo type B: Case series of Brazilian patients

Sanfilippo B 型疾病进展:巴西患者病例系列

Montenegro, Yorran Hardman Araújo; Kubaski, Francyne; Trapp, Franciele Barbosa; Riegel-Giugliani, Mariluce; Souza, Carolina Fischinger Moura de; Ribeiro, Erlane Marques; Lourenço, Charles Marques; Cardoso-Dos-Santos, Augusto César; Ribeiro, Márcia Gonçalves; Kim, Chong Ae; Castro, Matheus Augusto Araújo; Embiruçu, Emília Katiane; Steiner, Carlos Eduardo; Vairo, Filippo Pinto E; Baldo, Guilherme; Giugliani, Roberto; Poswar, Fabiano de Oliveira

An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report

一名患有胱硫醚β-合成酶缺乏症、弯指-关节病-髋内翻-心包炎综合征和耳聋的成年患者:病例报告

Donis, Karina Carvalho; Kalil, Marco Antônio Baptista; Poswar, Fabiano; Kok, Fernando; Kohem, Charles Lubianca; Poloni, Soraia; Borsatto, Taciane; Vairo, Filippo Pinto E; Pinheiro, Franciele Cabral; Schwartz, Ida Vanessa Doederlein

Follow-up of pre-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF

对患有1型戈谢病的成年患者进行帕金森病运动前期症状的随访,并分析其脑脊液中的溶酶体酶谱

Wilke, Matheus Vernet Machado Bressan; Poswar, Fabiano; Borelli, Wyllians Vendramini; Michelin Tirelli, Kristiane; Randon, Dévora Natalia; Lopes, Franciele Fátima; Pasetto, Fernanda Bender; Sebastião, Fernanda Medeiros; Iop, Gabrielle Dineck; Faqueti, Larissa; da Silva, Layzon Antonio; Kubaski, Francyne; Schuh, Artur Francisco Schumacher; Giugliani, Roberto; Schwartz, Ida Vanessa Doederlein

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

ALPK1基因功能获得性突变导致NF-κB介导的自身炎症性疾病:ROSAH综合征患者的功能评估、临床表型和疾病进程

Kozycki, Christina Torres; Kodati, Shilpa; Huryn, Laryssa; Wang, Hongying; Warner, Blake M; Jani, Priyam; Hammoud, Dima; Abu-Asab, Mones S; Jittayasothorn, Yingyos; Mattapallil, Mary J; Tsai, Wanxia Li; Ullah, Ehsan; Zhou, Ping; Tian, Xiaoying; Soldatos, Ariane; Moutsopoulos, Niki; Kao-Hsieh, Marie; Heller, Theo; Cowen, Edward W; Lee, Chyi-Chia Richard; Toro, Camilo; Kalsi, Shelley; Khavandgar, Zohreh; Baer, Alan; Beach, Margaret; Long Priel, Debra; Nehrebecky, Michele; Rosenzweig, Sofia; Romeo, Tina; Deuitch, Natalie; Brenchley, Laurie; Pelayo, Eileen; Zein, Wadih; Sen, Nida; Yang, Alexander H; Farley, Gary; Sweetser, David A; Briere, Lauren; Yang, Janine; de Oliveira Poswar, Fabiano; Schwartz, Ida Vanessa D; Silva Alves, Tamires; Dusser, Perrine; Koné-Paut, Isabelle; Touitou, Isabelle; Titah, Salah Mohamed; van Hagen, Petrus Martin; van Wijck, Rogier T A; van der Spek, Peter J; Yano, Hiromi; Benneche, Andreas; Apalset, Ellen M; Jansson, Ragnhild Wivestad; Caspi, Rachel R; Kuhns, Douglas Byron; Gadina, Massimo; Takada, Hidetoshi; Ida, Hiroaki; Nishikomori, Ryuta; Verrecchia, Elena; Sangiorgi, Eugenio; Manna, Raffaele; Brooks, Brian P; Sobrin, Lucia; Hufnagel, Robert B; Beck, David; Shao, Feng; Ombrello, Amanda K; Aksentijevich, Ivona; Kastner, Daniel L

Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome)

粘多糖贮积症VII型(斯莱综合征)的诊断和新兴治疗策略

Poswar, Fabiano de Oliveira; Henriques Nehm, Johanna; Kubaski, Francyne; Poletto, Edina; Giugliani, Roberto