作者搜索结果 :: UTM Library Massive Scholar Tracking

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Stearoyl-CoA Desaturase-1: Is It the Link between Sulfur Amino Acids and Lipid Metabolism? 由 Soraia Poloni, Henk J. Blom, Ida V. D. Schwartz

出版 2015-06-01

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2

New approaches to the treatment of orphan genetic disorders: Mitigating molecular pathologies using chemicals 由 RENATA V. VELHO, FERNANDA SPERB-LUDWIG, IDA V.D. SCHWARTZ

出版 2015-08-01

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3

Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome... 由 Deborah Elstein, Roberto Giugliani, Joseph Muenzer, Jörn Schenk, Ida V.D. Schwartz, Christina Anagnostopoulou

出版 2021-09-01

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4

Enzyme replacement therapy for Fabry disease: a systematic review and meta-analysis 由 Taciane Alegra, Filippo Vairo, Monica V. de Souza, Bárbara C. Krug, Ida V.D. Schwartz

出版 2012-01-01

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5

Website www.emergencyprotocol.net to Support Prevention of Metabolic Emergencies in Patients with Hepatic Glycogen Storage Diseases and Fatty Acid Oxidation Disorders 由 Carolina F. Moura de Souza, Bibiana M. de Oliveira, Ida V D. Schwartz, Terry Derks

出版 2021-08-01

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6

Clinical and molecular studies in five Brazilian cases of Friedreich ataxia Avaliação clínica e molecular de cinco pacientes brasileiros com ataxia de Friedreich 由 IDA V.D. SCHWARTZ, LAURA B. JARDIM, ANA C.S. PUGA, SÉRGIO COCOZZA, SANDRA LEISTNER, LUCIANE C. LIMA

出版 1999-03-01

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7

Mucopolissacaridose tipo VI (síndrome de Maroteaux-Lamy): avaliação da mobilidade articular e das forças de garra e de pinça Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)... 由 Antonio Cardoso-Santos, Ana C. M. M. Azevedo, Simone Fagondes, Maira G. Burin, Roberto Giugliani, Ida V. D. Schwartz

出版 2008-04-01

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8

[PROVISIONAL] Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma 由 Fernanda Sperb-Ludwig, Taciane Alegra, Renata Voltolini Velho, Nataniel Ludwig, Marina Siebert, Mariana Jobim, Filippo Vairo, Ida V. D. Schwartz

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9

Brazilian Food Reference Guide for Phenylalanine Content: A Study Based on the Perception of PKU Patients and Health Providers 由 Bruna Bento dos Santos, Bibiana Mello de Oliveira, Vaneisse C. Lima Monteiro, Soraia Poloni, Tassia Tonon, Ida V. D. Schwartz

出版 2022-07-01

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10

Avaliação prospectiva de 11 pacientes brasileiros com mucopolissacaridose II Prospective study of 11 Brazilian patients with mucopolysaccharidosis II 由 Louise L. C. Pinto, Ida V. D. Schwartz, Ana C. S. Puga, Taiane A. Vieira, Maria Verônica R. Munoz, Roberto Giugliani

出版 2006-08-01

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11

AminoApp: The First Brazilian Application for Dietary Monitoring of Inborn Errors of Metabolism in Patients on a Low-Protein Diet 由 Bianca Fasolo Franceschetto, Júlia Montim Orlandi, Wanessa de Carvalho Rosa, Mariana Lima Scortegagna, Lilia Farret, Ida V. D. Schwartz, Soraia Poloni

出版 2024-10-01

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12

Glycogen storage disease type I: clinical and laboratory profile 由 Berenice L. Santos, Carolina F.M. de Souza, Lavinia Schuler-Faccini, Lilia Refosco, Matias Epifanio, Tatiele Nalin, Sandra M.G. Vieira, Ida V.D. Schwartz

出版 2014-11-01

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13

Glycogen storage disease type I: clinical and laboratory profile 由 Berenice L. Santos, Carolina F.M. de Souza, Lavinia Schuler-Faccini, Lilia Refosco, Matias Epifanio, Tatiele Nalin, Sandra M.G. Vieira, Ida V.D. Schwartz

出版 2014-12-01

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14

Glycogen storage disease type I: clinical and laboratory profile 由 Berenice L. Santos, Carolina F.M. de Souza, Lavinia Schuler‐Faccini, Lilia Refosco, Matias Epifanio, Tatiele Nalin, Sandra M.G. Vieira, Ida V.D. Schwartz

出版 2014-11-01

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15

Hepcidin, Interleukin-6 Levels and Iron Metabolism Parameters in Patients with Hepatic Glycogen Storage Diseases: A Cross-Sectional Study 由 Tatiéle Nalin, Fernanda Sperb-Ludwig, Marina Siebert, Gustavo Mottin Rizowy, David A. Weinstein, Terry G. J. Derks, Carolina F. M. de Souza, Ida V. D. Schwartz

出版 2024-08-01

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16

Evaluation of the frequency of non-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1 由 Matheus V. M. B. Wilke, Alícia D. Dornelles, Artur S. Schuh, Filippo P. Vairo, Suelen P. Basgalupp, Marina Siebert, Tatiele Nalin, Otavio B. Piltcher, Ida V. D. Schwartz

出版 2019-05-01

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17

O ENSINO DE GENÉTICA NA MEDICINA: COMO OS ALUNOS PERCEBEM A GENÉTICA CLÍNICA 由 Carolina F.M Souza, Ida V. D. Schwartz, Sílvia P. Ruschel, Ana Cristina Puga, Alexandre M. Reis, Fabrício S. Costa, Ricardo P. Dias, Renato Z. Flores, Lavínia Schuler

出版 2021-02-01

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18

A decade of molecular diagnosis of Mucolipidosis II and III in Brazil: a pooled analysis of 32 patients 由 Nataniel F Ludwig, Fernanda Sperb-Ludwig, Dévora N Randon, Pricila Bernardi, Liane R Giuliani, Carolina A Moreno, Denise P Cavalcanti, Luiz CS da Silva, Ida V D Schwartz

出版 2021-04-01

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19

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders 由 Diana Rojas Málaga, Ana Carolina Brusius-Facchin, Marina Siebert, Gabriela Pasqualim, Maria Luiza Saraiva-Pereira, Carolina F.M de Souza, Ida V.D. Schwartz, Ursula Matte, Roberto Giugliani

出版 2019-04-01

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20

Prevalence and causes of congenital microcephaly in the absence of a Zika virus outbreak in southern Brazil 由 Silvani Herber, André A. Silva, Maria Teresa V. Sanseverino, Luciana Friedrich, Tani M.S. Ranieri, Catia Favreto, Lucas R. Fraga, Anna P. Terra, Ida V.D. Schwartz, Lavínia Schuler‐Faccini

出版 2019-09-01

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