Zobrazeno 1 - 10
of 75
pro vyhledávání: '"FERNANDA SPERB-LUDWIG"'
Autor:
Vaneisse Monteiro, Karina Colonetti, Carlos Henrique Pagno, Helena OS Schmidt, Fernanda Sperb-Ludwig, Bibiana Mello de Oliveira, Soraia Poloni, Alessandro O Rios, Carolina F Moura de Souza, Ida Vanessa Doederlein Schwartz
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-7 (2024)
Abstract Background Glycogen storage disease type Ia (GSD-Ia) is one of the most common hepatic GSD. Its treatment mainly consists of a diet including a high intake of slow-digestion carbohydrates such as raw cornstarch and the restriction of simple
Externí odkaz:
https://doaj.org/article/d93295b931fb47888e5200c76f0edeb8
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:
Giovana Regina Weber Hoss, Fernanda Sperb-Ludwig, Tássia Tonon, Soraia Poloni, Sidney Behringer, Henk J. Blom, François Maillot, Ida Vanessa Doederlein Schwartz
Publikováno v:
Genetics and Molecular Biology, Vol 46, Iss 3 suppl 1 (2024)
Abstract Hyperhomocysteinemia and vitamin B12 deficiency have been reported in patients with phenylketonuria. In this study, total homocysteine (tHcy) and methylmalonic acid (MMA) levels were analyzed in samples from 25 phenylketonuria (PKU) patients
Externí odkaz:
https://doaj.org/article/78b8aa0bac9f4db58469ead2acc98901
Autor:
Fernanda Sperb-Ludwig, Nataniel Floriano Ludwig, Gustavo Mottin Rizowy, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz
Publikováno v:
Genetics and Molecular Biology, Vol 46, Iss 3 suppl 1 (2023)
Abstract Mucolipidosis II and III (MLII and MLIII) are autosomal recessive diseases caused by pathogenic variants in GNPTAB and GNPTG genes that lead to defects in GlcNAc-1-phosphotransferase. This enzyme adds mannose 6-phosphate residues to lysosoma
Externí odkaz:
https://doaj.org/article/76bbbfa40fd94683a879fe85938c90a3
Autor:
Mariana Lopes dos Santos, Dévora Natalia Randon, Fernanda Hendges de Bitencourt, Fernanda Sperb-Ludwig, Fernanda Sales Luiz Vianna, Carmen Regla Vargas, Angela Sitta, Ida Vanessa Doederlein Schwartz, Yong-Qing Zhu
Publikováno v:
Reproductive and Developmental Medicine, Vol 6, Iss 2, Pp 92-97 (2022)
Abstract. Objectives:. To investigate the prevalence of ACADM pathogenic variants, c.985A>G and c.199T>C, for medium chain acyl CoA dehydrogenase deficiency (MCADD) in a healthy population in the southern region of Brazil. Methods:. This was an obser
Externí odkaz:
https://doaj.org/article/76ddd50c952140f2ab5a73290d042e5d
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:
Ana Vitoria Barban Margutti, Wilson Araújo Silva, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Tatiana Amorim, Vânia Mesquita Gadelha Prazeres, Raquel Tavares Boy da Silva, Irene Kazue Miura, João Seda Neto, Emerson de Santana Santos, Mara Lúcia Schmitz Ferreira Santos, Charles Marques Lourenço, Tássia Tonon, Fernanda Sperb-Ludwig, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, José Simon Camelo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded
Externí odkaz:
https://doaj.org/article/2039cf41956a41fdbfad39b064da9a4f
Autor:
Gerda Cristal Villalba Silva, Taciane Borsatto, Ida Vanessa Doederlein Schwartz, Fernanda Sperb-Ludwig
Publikováno v:
Genetics and Molecular Biology, Vol 45, Iss 1 (2022)
Abstract Reduced biotinidase activity is associated with a spectrum of deficiency ranging from total deficiency to heterozygous levels, a finding that is not always explained by the pathogenic variants observed in the BTD gene. The investigation of m
Externí odkaz:
https://doaj.org/article/5c357a6841ad42338653153c43ea9cba
Autor:
Diana Ruffato Resende Campanholi, Ana Vitoria Barban Margutti, Wilson A. Silva Jr, Daniel F. Garcia, Greice A. Molfetta, Adriana A. Marques, Ida Vanessa Döederlein Schwartz, V. Cornejo, Valerie Hamilton, Gabriela Castro, Fernanda Sperb‐Ludwig, Ester S. Borges, José S. Camelo Jr
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
ABSTRACT Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched‐chain α‐keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial comple
Externí odkaz:
https://doaj.org/article/8cd15723dba14972b937aae7e4a418b1
Autor:
Franciele Cabral Pinheiro, Rodrigo Ligabue-Braun, Ana Cecília Menezes de Siqueira, Camila Matuella, Carolina Fischinger Moura de Souza, Fabíola Paoli Monteiro, Fernando Kok, Ida Vanessa Doederlein Schwartz, Fernanda Sperb-Ludwig
Publikováno v:
Genetics and Molecular Biology, Vol 44, Iss 2 (2021)
Abstract Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inborn error of fructose metabolism caused by pathogenic variants in the FBP1 gene. As gluconeogenesis is affected, catabolic episodes can induce ketotic hypoglycemia in patients. FBP
Externí odkaz:
https://doaj.org/article/54dda3fbf66d4e299fe2cad4b5412f16