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I

Ida Vanessa Döederlein Schwartz

Federal University of Rio Grande do Sul

46H指数
613论文数
7.7K被引数
收录论文 158
发表时间
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Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl‐ tRNA Synthetase Deficiencies针对线粒体氨酰-tRNA合成酶缺乏的儿科患者的定制氨基酸治疗
errJournal of Inherited Metabolic Disease
IF3.8
err2026-10-12
err0
errOAAI
errI. J. J. Muffels; G. Kok; Z. Tang; L. S. Medeiros; F. O. Poswar; W. P. Vermeij; R. Rodenburg; K. Smit; S. K. Sukumaran; S. B. Wortmann; L. Averdunk; J. Munch; J. Pak‐lam Ho; A. M. K. Kwok; E. E. S. Nieuwenhuis; P. M. van Hasselt; I. V. D. Schwartz; C. M. A. Lubout; A. M. Bosch; K. Koop; E. M. M. Hoytema van Konijnenburg; S. A. Fuchs
err分享
err收藏
Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study钴胺素相关再甲基化障碍：妊娠结局与产前治疗—新病例及文献研究
errJournal of Inherited Metabolic Disease
IF3.8
err2026-09-06
err0
PREAI
errKarolina M. Stepien; Jolanta Sykut-Cegielska; Jennifer Sloan; Flavia Piazzon; Sarah Bick; Juliette Bouchereau; Edwin C. Ferren; Nina Gold; Apolline Imbard; Mirian C. H. Janssen; Pavel Jesina; Lisa A. Joseph; Amanda Krzywdzińska-Rogowska; Louise Lapagesse; Fanny Mochel; Carol Van Ryzin; Manuel Schiff; Ida Vanessa Schwartz; Audrey Thurm; Wadih M. Zein; Charles P. Venditti; Martina Huemer; Irini Manoli
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Global birth prevalence of galactosemia and the role of neonatal screening: A scoping review全球半乳糖血症的出生患病率及新生儿筛查的作用：一项范围综述
errMolecular Genetics and Metabolism
IF3.5
err2026-08-01
err0
PREAI
errPessi, Augusto Vargas; Coutinho, Vivian de Lima Spode; dos Santos, Bruna Bento; Schwartz, Ida Vanessa Doederlein; Rotta, Liane Nanci
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Genetic landscape of phenylketonuria in Brazil巴西苯丙酮尿症的遗传景观
errOrphanet Journal of Rare Diseases
IF3.5
err2026-07-09
err0
errOAAI
errRafael Hencke Tresbach; João Braga de Abreu Neto; Fernanda Sperb-Ludwig; Marta Wey Vieira; Roseli Divino Costa; Pedro Eduardo Bonfim Freitas; Luiz Carlos Santana da Silva; Louise Lapagesse de Camargo Pinto; Marcial Francis Galera; Keyla Christy Christine Mendes Sampaio Cunha; Cezar Antonio Abreu de Souza; José Nélio Januário; Marcos José Burle Aguiar; Romina Soledad Heredia; Maria Teresa Alves da Silva Rosa; Monique Oliveira Poubel; François Maillot; Ida Vanessa Doederlein Schwartz
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Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and Phenotypes长链脂肪酸氧化障碍基因：LC-FAOD变异体、基因型和表型的综合性遗传数据库
errHuman Mutation
IF3.7
err2026-07-07
err0
errOAAI
errHeather Richbourg; Vanessa Rangel Miller; Omid Khazaie Japalaghi; Moeenaldeen AlSayed; Peter R. Baker; Sean Daugherty; Tali Ekstein; Sarah C. Grünert; Mark J. Kiel; Aneal Khan; Hironori Kobayashi; Lawrence Korngut; Stephanie A. Monteleone; Ida Vanessa D. Schwartz; Nicole Miller; Jerry Vockley
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Body composition in adults with phenylketonuria: A 5 years follow-up study苯丙酮尿症成年患者身体成分：一项5年随访研究
errMolecular Genetics and Metabolism Reports
IF1.9
err2026-05-01
err0
PREAI
errFranceschetto, Bianca Fasolo; Moutapam-Ngamby-Adriaansen, Yannick; Tressel, Nathalie; de Luca, Arnaud; Schiff, Manuel; Poloni, Soraia; Schwartz, Ida Vanessa D.; Maillot, Francois
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Corrigendum to “Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome” [Biochim. Biophys. Acta Mol. Basis Dis. 1872 (2026)/168184]勘误：“Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome” [Biochim. Biophys. Acta Mol. Basis Dis. 1872 (2026)/168184]
errBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
IF0
err2026-03-11
err0
errOAAI
errBusra Aynekin; Tracy Lau; Rauan Kaiyrzhanov; Ioannis Papazoglou; Ayten Gulec; Ummu Gulsum Ozgul Gumus; Svetlana Gorokhova; Busa Tiffany; Leonardo Simão Medeiros; Ida Vanessa Doederlein Schwartz; Mehmet Burak Mutlu; Sofia Ourani; Anke Bergman; Kelly Schoch; Huseyin Per; Nurdeniz Nalbant Bingol; Sehime G. Temel; Serdar Durdağı; Semra Hız; Geneviève Bernard
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Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome新型VARS1变异定义了一种罕见神经发育综合征的新临床和分子亚型
errBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
IF0
err2026-02-10
err0
errOAAI
errBusra Aynekin; Tracy Lau; Rauan Kaiyrzhanov; Ioannis Papazoglou; Ayten Gulec; Ummu Gulsum Ozgul Gumus; Svetlana Gorokhova; Busa Tiffany; Leonardo Simão Medeiros; Ida Vanessa Doederlein Schwartz; Mehmet Burak Mutlu; Sofia Ourani; Anke Bergman; Kelly Schoch; Huseyin Per; Nurdeniz Nalbant Bingol; Sehime G. Temel; Serdar Durdağı; Semra Hız; Geneviève Bernard
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Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension Study长期Sepiapterin治疗对苯丙酮尿症患者饮食苯丙氨酸耐受性的影响：APHENITY扩展研究III期研究的阶段性结果
errGenetics in Medicine
IF6.2
err2026-01-12
err0
errOAAI
errFrancjan van Spronsen; Heidi Peters; Lali Margvelashvili; Dodo Agladze; Ida Vanessa D. Schwartz; Maria Giżewska; Takashi Hamazaki; Laura Guilder; Anita MacDonald; Suresh Vijay; Anita Inwood; Maria Minami; Olivia Fjellbirkeland; Allan Lund; Melissa Lah; Janet A. Thomas; Nicola Longo; Ertuğrul Kiykim; Mika Ishige; Alberto Burlina
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Serum hepcidin as a biomarker of treatment response in Gaucher disease血清肝细胞抑素作为戈谢病治疗反应的生物标志物
errMolecular Genetics and Metabolism Reports
IF1.9
err2025-12-01
err0
errOAAI
errKoppe, Tiago; Pinheiro, Franciele C.; Siebert, Marina; Basgalupp, Suelen; Daudt, Liane E.; Schwartz, Ida Vanessa D.
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Psychometric properties of perceived barriers to PKU treatment inventory in a Brazilian national sample《苯丙酮尿症治疗感知障碍量表在巴西全国样本中的心理测量属性》
errOrphanet Journal of Rare Diseases
IF3.5
err2025-09-29
err0
errOAAI
errKatia Irie Teruya; Eduardo Remor; Ida Vanessa Doederlein Schwartz
err分享
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Training Primary Healthcare Professionals for Expanded Newborn Screening with Tandem Mass Spectrometry: Challenges for Community Genetics in Brazil培训扩展新生儿筛查串联质谱技术的初级保健专业人员：巴西社区遗传学面临的挑战
errInternational Journal of Neonatal Screening 2025, Vol. 11, Page 51
IF4
err2025-09-29
err0
errOAAI
errLuzivan Costa Reis; Tassia Tonon; Marina Bernardes Acosta; Simone Martins de Castro; Vivian de Lima Spode Coutinho; Débora Gusmão Melo; Ida Vanessa Doederlein Schwartz
err分享
err收藏
Training Primary Healthcare Professionals for Expanded Newborn Screening with Tandem Mass Spectrometry: Challenges for Community Genetics in Brazil培训应用串联质谱技术进行扩展新生儿筛查的初级卫生保健专业人员：巴西社区遗传学面临的挑战
errInternational Journal of Neonatal Screening 2025, Vol. 11, Page 51
IF4
err2025-08-21
err0
PREAI
errLuzivan Costa Reis; Tassia Tonon; Marina Bernardes Acosta; Simone Martins de Castro; Vivian de Lima Spode Coutinho; Débora Gusmão Melo; Ida Vanessa Doederlein Schwartz
err分享
err收藏
Global considerations for lifelong management and therapeutic development for phenylketonuria苯丙酮尿症终身管理与治疗开发的全球考量
errGenetics in Medicine
IF6.2
err2025-08-05
err0
PREAI
errNicola Longo; Takashi Hamazaki; Suzanne Hollander; Anita MacDonald; Ania C. Muntau; Ida Vanessa D. Schwartz
err分享
err收藏
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
errMolecular Genetics and Metabolism
IF3.5
err2025-06-09
err0
PREAI
errLeonardo 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
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Clinical trials to gene therapy development and production in Brazil: a review
errLANCET REGIONAL HEALTH-AMERICAS
IF7.6
err2025-03-01
err0
PREAI
errSaute, Jonas Alex Morales; Picanco-Castro, Virginia; Lopes, Ana Carolina de Freitas; Junior, Joao Batista da Silva; Nehm, Johanna Henriques; Maciel, Franciele dos Santos; Schwartz, Ida Vanessa Doederlein; Sallum, Juliana Maria Ferraz; Ozelo, Margareth Castro; Giugliani, Roberto; Bonamino, Martin; Petrs-Silva, Hilda; Baldo, Guilherme
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Results from GALILEO1, a first in human clinical trial of FLT201 AAV-gene therapy in adult patients with Gaucher disease type 1
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errSharma, Reena; Goker-Alpan, Ozlem; V.d. Schwartz, Ida; Giraldo, Pilar; Whittaker, Andrew; Ferrante, Francesca
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Predicting liver fibrosis in Gaucher disease: Investigation of contributors and development of a clinically applicable Gaucher liver fibrosis score预测戈谢病的肝纤维化: 研究贡献者和临床适用的戈谢病肝纤维化评分的发展
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errStarosta, Rodrigo T.; Ferraro, Lethicia Campos; de Mattos, Gabriela Ponte; Teixeira, Lucas Ferreira; Poswar, Fabiano de Oliveira; Michalczuk, Matheus; Alvares-da-Silva, Mario Reis; Schwartz, Ida Vanessa Doederlein
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Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network巴西罕见病的流行病学特征：巴西罕见病网络的回顾性研究
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2024-10-30
err2
errOAAI
errde Oliveira, Bibiana Mello; Bernardi, Filipe Andrade; Baiochi, Joao Francisco; Neiva, Mariane Barros; Artifon, Milena; Vergara, Alberto Andrade; Martins, Ana Maria; Grumach, Anete Sevciovic; Acosta, Angelina Xavier; El Husny, Antonette Souto; Ribeiro, Bethania de Freitas Rodrigues; Ramos, Camila Ferreira; Steiner, Carlos Eduardo; Kim, Chong Ae; Christofolini, Denise Maria; Yamada, Diego Bettiol; Carvalho, Ellaine Doris Fernandes; Ribeiro, Erlane Marques; Bastos, Fabiola de Arruda; Serpa, Faradiba Sarquis; Brandao, Flavia Reseda; Adjuto, Giselle Maria Araujo Felix; Carvalho, Isabelle; Saute, Jonas Alex Morales; Llerena Junior, Juan Clinton; Bueno, Larissa Souza Mario; da Silva, Luiz Carlos Santana; Santos, Mara Lucia Schmitz Ferreira; Costa, Marcela Camara Machado; Giusti, Marcia Maria Costa Giacon; Galera, Marcial Francis; Colombo Filho, Marcio Eloi; de Andrade, Maria Denise Fernandes Carvalho; Cardoso, Maria Teresinha De Oliveira; Ferreira, Marilaine Matos de Menezes; Zeny, Michelle; Caldato, Milena Coelho Fernandes; Sorte, Ney Boa; Musolino, Nina Rosa de Castro; de Medeiros, Paula Frassinetti Vasconcelos; Zen, Paulo Ricardo Gazzola; Da Silva, Raquel Tavares Boy; Maia, Rayana Elias; Fock, Rodrigo; Almeida, Rosemarie Elizabeth Schimidt; Valle, Solange Oliveira Rodrigues; Amorim, Tatiana; Teixeira, Thais Bomfim; Prazeres, Vania Mesquita Gadelha; Ferraz, Victor Evangelista de Faria; Lima, Vinicius Costa; Paiva, Wagner Jose Martins; Schwartz, Ida Vanessa Doederlein; Alves, Domingos; Felix, Temis Maria
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What is known about patients' quality of life with Phenylketonuria and their caregivers? A scoping review
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2024-10-28
err0
errOAAI
errRemor, Eduardo; Gabe, Kamilla Mueller; Teruya, Katia Irie; Doederlein Schwartz, Ida Vanessa
err分享
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研究方向

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合作学者
合作期刊
M
Michael P. Milham
H 指数: 114 · 论文数: 503
S
Stuart Kornfeld
H 指数: 104 · 论文数: 278
H
Henk J. Blom
H 指数: 95 · 论文数: 522
K
Kenneth D.R. Setchell
H 指数: 93 · 论文数: 478
R
Roberto Giugliani
H 指数: 80 · 论文数: 1.4K
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