Zobrazeno 1 - 10
of 77
pro vyhledávání: '"V. A. Schwartz"'
Autor:
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
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 12 (2024)
Abstract Hepatic glycogen storage diseases (GSD) are characterized by recurrent episodes of hypoglycemia, and anemia has been recognized as a frequent complication of these disorders.This was a convenience cross-sectional study to evaluate hepcidin a
Externí odkaz:
https://doaj.org/article/ce099c1370144a2d9ceefed56e3ec05f
Autor:
O. M. Posnenkova, A. P. Kiselev, V. I. Gridnev, V. A. Schwartz, P. Ya. Dovgalevskyi, E. V. Oshchepkova
Publikováno v:
Кардиоваскулярная терапия и профилактика, Vol 11, Iss 3, Pp 4-11 (2012)
Aim. (1) To investigate clinical characteristics of primary care patients with arterial hypertension (AH), according to the achievement of target blood pressure (BP) levels; (2) to assess the effectiveness of therapeutic measures aimed at achieving t
Externí odkaz:
https://doaj.org/article/8c0797ef5d404a62909c713a11f1ee7c
Autor:
A. D. Dornelles, A. P. P. Junges, B. Krug, C. Gonçalves, H. A. de Oliveira Junior, I. V. D. Schwartz
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
IntroductionPompe disease (PD) is a glycogen disorder caused by the deficient activity of acid alpha-glucosidase (GAA). We sought to review the latest available evidence on the safety and efficacy of recombinant human GAA enzyme replacement therapy (
Externí odkaz:
https://doaj.org/article/b88b54725ec74b33b8439b5b56204053
Autor:
Bianca Panis, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Martijn C. G. J. Brouwers, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, Anibh M. Das, Didem Demirbas, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Adriana Pané, Sabrina Paci, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Classic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients. Problems with cognitive function, neuropsycholo
Externí odkaz:
https://doaj.org/article/7beddebac074439492e10a7f8e3d6ca8
Autor:
A. L. S. Pessoa, A. M. Martins, E. M. Ribeiro, N. Specola, A. Chiesa, D. Vilela, E. Jurecki, D. Mesojedovas, I. V. D. Schwartz
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-36 (2022)
Abstract Background Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency of the enzyme phenylalanine hydroxylase. If untreated, the complications of PKU lead to significant neucognitive and neuropsychiatric impairments, placi
Externí odkaz:
https://doaj.org/article/521dc28ce7ba47c8b8c128c3faa5b118
Autor:
Têmis Maria Félix, Bibiana Mello de Oliveira, Milena Artifon, Isabelle Carvalho, Filipe Andrade Bernardi, Ida V. D. Schwartz, Jonas A. Saute, Victor E. F. Ferraz, Angelina X. Acosta, Ney Boa Sorte, Domingos Alves, RARAS Network group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laborat
Externí odkaz:
https://doaj.org/article/90e2669b4e254982a0ad0a8cb9c03645
Autor:
José A. Paz, Emilia K. Embiruçu, Clarissa Bueno, Rafaela C. C. L. Ferreira, Fernanda S. Oliveira, Ane S. S. Pereira, Ida V. D. Schwartz, Anderson R. B. Paiva, Leandro T. Lucato, Fernando Kok
Publikováno v:
JIMD Reports, Vol 62, Iss 1, Pp 49-55 (2021)
Abstract Adenosine kinase (ADK) deficiency is a very rare inborn error of methionine and adenosine metabolism. It is characterized by developmental delay, hypotonia, epilepsy, facial dysmorphism, failure to thrive, transient liver dysfunction with ch
Externí odkaz:
https://doaj.org/article/a2caa55d6d714e1c919822fa5a5b3b22
Autor:
Bruna Bento dos Santos, Bibiana Mello de Oliveira, Vaneisse C. Lima Monteiro, Soraia Poloni, Tassia Tonon, Ida V. D. Schwartz
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 10 (2022)
Abstract The mainstay of management of phenylketonuria (PKU) is restriction of dietary phenylalanine (Phe) intake. The present study sought to assess the perception and understanding of health care providers and lay users (patients/family members/car
Externí odkaz:
https://doaj.org/article/b57248e5af864c04ac89b2398efcca67
Autor:
Vaneisse C. L. Monteiro, Bibiana M. de Oliveira, Bruna B. dos Santos, Fernanda Sperb-Ludwig, Lilia F. Refosco, Tatiele Nalin, Terry G. J. Derks, Carolina F. Moura de Souza, Ida V. D. Schwartz
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Glycogen storage disease type 1a (GSD Ia) is characterized by severe fasting hypoglycemia. The clinical management includes the administration of uncooked cornstarch (UCCS). Although such a diet approach is effective in achieving
Externí odkaz:
https://doaj.org/article/dca94da94d5f4fccb400079ba8306451
Autor:
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
Publikováno v:
Revista Brasileira de Educação Médica, Vol 20, Iss 2-3, Pp 33-40 (2021)
Resumo Considerando a genética como uma área de rápido avanço nas áreas biomédicas e de inclusão recente como disciplina nos currículos das faculdades de medicina, procura-se verificar o grau e o tipo de conhecimento por parte dos alunos de m
Externí odkaz:
https://doaj.org/article/eb5662983b0c4878a2cf9c59e6731144