檢索結果 - IDA V.D. SCHWARTZ

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  1. 1

    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

    發表在 Biology (2015-06-01)
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  2. 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

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  3. 3

    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

    發表在 Genetics and Molecular Biology (2012-01-01)
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  4. 4

    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

    發表在 Arquivos de Neuro-Psiquiatria (1999-03-01)
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  5. 5

    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

    發表在 Jornal de Pediatria (2008-04-01)
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  6. 6

    A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling 由 Renata Voltolini Velho, Taciane Alegra, Fernanda Sperb, Nataniel Floriano Ludwig, Maria Luiza Saraiva-Pereira, Ursula Matte, Ida V.D. Schwartz

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  7. 7

    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

    發表在 Healthcare Informatics Research (2024-10-01)
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  8. 8

    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

    發表在 Jornal de Pediatria (2014-11-01)
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  9. 9

    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

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  10. 10

    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

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  11. 11

    X-linked adrenoleukodystrophy: clinical and laboratory findings in 15 Brazilian patients 由 Carmen R. Vargas, Daniella de M. Coelho, Alethéa G. Barschak, Carolina F.M. de Souza, Ana C.S. Puga, Ida V.D. Schwartz, Laura Jardim, Roberto Giugliani

    發表在 Genetics and Molecular Biology (2000-06-01)
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  12. 12

    B Complex Vitamins Profile in Patients with Hepatic Glycogen Storage Disease and its Possible Determinants 由 Mariana L. Scortegagna, Bibiana M. de Oliveira, Soraia Poloni, Vaneisse C. L. Monteiro, Bianca F. Franceschetto, Lilia R. Farret, François Maillot, Carolina F. M. Souza, Ida V. D. Schwartz

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  13. 13

    Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. 由 Taciane Borsatto, Fernanda Sperb-Ludwig, Samyra E Lima, Maria R S Carvalho, Pablo A S Fonseca, José S Camelo, Erlane M Ribeiro, Paula F V de Medeiros, Charles M Lourenço, Carolina F M de Souza, Raquel Boy, Têmis M Félix, Camila M Bittar, Louise L C Pinto, Eurico C Neto, Henk J Blom, Ida V D Schwartz

    發表在 PLoS ONE (2017-01-01)
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  14. 14

    Brain function in classic galactosemia, a galactosemia network (GalNet) members review 由 Bianca Panis, Bianca Panis, Bianca Panis, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Annet M. Bosch, Annet M. Bosch, Martijn C. G. J. Brouwers, Martijn C. G. J. Brouwers, Alberto Burlina, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, María L. Couce, Anibh M. Das, Anibh M. Das, Didem Demirbas, Aurélie Empain, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Elisa Leão-Teles, Dorothea Möslinger, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Katrin Õunap, Adriana Pané, Adriana Pané, Sabrina Paci, Sabrina Paci, Rossella Parini, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo

    發表在 Frontiers in Genetics (2024-02-01)
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