Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Matheus Vernet Machado Bressan Wilke"'
Autor:
Matheus Vernet Machado Bressan Wilke, Fabiano Poswar, Wyllians Vendramini Borelli, Kristiane Michelin Tirelli, Dévora Natalia Randon, Franciele Fátima Lopes, Fernanda Bender Pasetto, Fernanda Medeiros Sebastião, Gabrielle Dineck Iop, Larissa Faqueti, Layzon Antonio da Silva, Francyne Kubaski, Artur Francisco Schumacher Schuh, Roberto Giugliani, Ida Vanessa Doederlein Schwartz
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Parkinson’s disease (PD) is the second most common neurodegenerative disease worldwide. Its classic motor symptoms may be preceded by non-motor symptoms (NMS). Population studies have identified GBA variants as risk factors for
Externí odkaz:
https://doaj.org/article/bf6ad57cb09b45cb9daa95c408bf30fb
Autor:
Matheus Vernet Machado Bressan Wilke, Gabrielle Dineck Iop, Larissa Faqueti, Layzon Antonio Lemos da Silva, Francyne Kubaski, Fabiano O. Poswar, Kristiane Michelin-Tirelli, Dévora Randon, Wyllians Vendramini Borelli, Roberto Giugliani, Ida Vanessa D. Schwartz
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 5, p 2870 (2024)
Gaucher disease (GD, OMIM 230800) is one of the most common lysosomal disorders, being caused by the deficient activity of the enzyme acid β-glucocerebrosidase (Gcase). Three clinical forms of Gaucher’s disease (GD) are classified based on neurolo
Externí odkaz:
https://doaj.org/article/6606380c4d7e48fa81f04eb927d00eef
Autor:
Matheus Vernet Machado Bressan Wilke, Bibiana Mello de Oliveira, Rodrigo Tzovenos Starosta, Marwan Shinawi, Liang Lu, Mai He, Yamin Ma, Janis Stoll, Carolina Fischinger Moura de Souza, Ana Cecilia Menezes de Siqueira, Sandra Maria Gonçalves Vieira, Carlos Thadeu Cerski, Lilia Farret Refosco, Ida Vanessa Doederlein Schwartz
Publikováno v:
Biomedicines, Vol 11, Iss 2, p 363 (2023)
Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disease caused by variants in the GBE1 gene, which encodes the glycogen branching enzyme (GBE). GSD IV accounts for approximately 3% of all GSD. The phenotype of GSD IV ra
Externí odkaz:
https://doaj.org/article/5fe1cd927d5b4351b215fd23b109fa77
Autor:
Nicole Ruas Guarany PhD, Ana Paula Vanz MD, Matheus Vernet Machado Bressan Wilke, Daniele Dorneles Bender, Mariana Dumer Borges, Roberto Giugliani PhD, Ida Vanessa Doederlein Schwartz PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 3 (2015)
The mucopolysaccharidoses (MPSs) are a group of rare genetic diseases caused by a deficiency of specific enzymes involved in catabolism of glycosaminoglycans, which causes multisystem abnormalities. Quality of life (QoL) is directly associated with p
Externí odkaz:
https://doaj.org/article/2850270a81984b7fb6dbc282b785a568
Autor:
Marta Zawadzka, Magdalena Krygier, Małgorzata Pawłowicz, Matheus Vernet Machado Bressan Wilke, Karolina Rutkowska, Naig Gueguen, Valerie Desquiret‐Dumas, Eric W. Klee, Lisa A. Schimmenti, Jarosław Sławek, Vincent Procaccio, Rafał Płoski, Maria Mazurkiewicz‐Bełdzińska
Publikováno v:
Clinical geneticsREFERENCES. 102(5)
Leigh syndrome (LS) is a progressive neurodegenerative disease, characterized by extensive clinical, biochemical, and genetic heterogeneity. Recently, biallelic variants in DNAJC30 gene, encoding a protein crucial for the repair of mitochondrial comp
Autor:
Carolina Fischinger Moura de Souza, Ida Vanessa Doederlein Schwartz, Matheus Vernet Machado Bressan Wilke, Natan Monsores, Decio Brunoni, Dévora N Randon, Dafne Dain Gandelman Horovitz
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
The COVID‐19 pandemic has led to a reorganization of health systems to prioritize the fight against the virus. The adoption of social distancing interfered with the flow of existing policies, and may thus negatively affect the most vulnerable group
Autor:
Tatiana Prade Hemesath, Mariluce Riegel, Matheus Vernet Machado Bressan Wilke, Clarissa Gutierrez Carvalho, Júlio César Loguercio Leite, Guilherme Guaragna-Filho, Eduardo Corrêa Costa, Iara Regina Siqueira Lucena
Publikováno v:
Urology. 158
This report describes an adolescent with Mixed Gonadal Dysgenesis and unexpected mosaicism [karyotype 46,X,mar(Y)/ 47,X, mar(Y),+mar(Y)].). Diagnosis with 1 month of age due to atypical genitalia. He presented a right streak gonad, which was removed
Autor:
Lívia D'Avila Paskulin, Matheus Vernet Machado Bressan Wilke, Francyne Kubaski, Roberto Giugliani, Ida Vanessa Doederlein Schwartz
Publikováno v:
Molecular Genetics and Metabolism. 132:S112-S113
Autor:
Artur Francisco Schumacher Schuh, Matheus Vernet Machado Bressan Wilke, Tatiéle Nalin, Suelen Porto Basgalupp, Alícia Dorneles Dornelles, Ida Vanessa Doederlein Schwartz, Filippo Vairo, Otavio B. Piltcher, Marina Siebert
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
Background Gaucher disease (GD) is caused by deficiency of beta-glucocerebrosidase (GCase) due to biallelic variations in the GBA1 gene. Parkinson’s disease (PD) is the second most common neurodegenerative condition. The classic motor symptoms of P
Autor:
Matheus Vernet Machado Bressan Wilke, Fernanda Sperb-Ludwig, Filippo Vairo, Ida Vanessa Doederlein Schwartz, Cristina Brinckmann Oliveira Netto, Eurico Camargo Neto, Kristiane Michellin-Tirelli
Publikováno v:
Annals of Hematology. 94:1119-1125
Gaucher disease (GD) is one of the most prevalent lysosomal storage disorders and the disorder that has the greatest immune system involvement. Pathologic lipid accumulation in macrophages accounts for a small amount of the additional tissue mass in