13 documents found, page 1 of 2
Molecular profile and peripheral markers of neurodegeneration in patients with ...
Hammerschmidt, Tatiane Grazieli; Encarnação, Marisa; Lamberty Faverzani, Jéssica; de Fátima Lopes, Franciele; Oliveira, Fabiano Poswar deNiemann-Pick type C1 (NPC1) is a fatal inherited disease, caused by pathogenic variants in NPC1 gene, which leads to intracellular accumulation of non-esterified cholesterol and glycosphingolipids. This accumulation leads to a wide range of clinical manifestations, including neurological and cognitive impairment as well as psychiatric disorders. The pathophysiology of cerebral damage involves loss of Purkinje c...
Leukocyte Imbalances in Mucopolysaccharidoses Patients
Lopes, Nuno; Maia, Maria L.; Pereira, Cátia S.; Mondragão-Rodrigues, Inês; Martins, Esmeralda; Ribeiro, Rosa; Gaspar, Ana; Aguiar, PatrícioMucopolysaccharidoses (MPSs) are rare inherited lysosomal storage diseases (LSDs) caused by deficient activity in one of the enzymes responsible for glycosaminoglycans lysosomal degradation. MPS II is caused by pathogenic mutations in the IDS gene, leading to deficient activity of the enzyme iduronate-2-sulfatase, which causes dermatan and heparan sulfate storage in the lysosomes. In MPS VI, there is dermatan s...
Clinical and diagnostic aspects of Fabry disease management: a narrative review...
Giugliani, Roberto; Marques, Sandra; Andrade, Luis G. M. De [UNESP]; Pessoa, André; Vaisbich, Maria H.; Blum, Angélica; Tenório, FernandaMade available in DSpace on 2022-04-28T16:56:20Z (GMT). No. of bitstreams: 0 Previous issue date: 2022-03-07. Added 1 bitstream(s) on 2022-04-28T17:11:39Z : No. of bitstreams: 1 S2326-45942022000100403.pdf: 359609 bytes, checksum: 9a96c9d8e48e9f815b8a239d82b6a57a (MD5); Research on the genetics, epidemiology, and clinical manifestations of Fabry disease (FD) has increased significantly in recent years. However,...
Non viral gene transfer approaches for lysosomal storage disorders
Matte, Ursula da Silveira; Baldo, Guilherme; Giugliani, Roberto
Freqüências de defeitos congênitos em região carbonífera : um estudo no Rio Gra...
Leite, Júlio César Loguercio; Faccini, Lavinia Schuler; Tatto, Erica; Melo, Cíntia Acosta; Nunes, Andréia da Silva; Brandão, Suzan L.
Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in North...
Motta, Fabiana Moura Costa; Acosta, Angelina Xavier; Abe Sandes, Kiyoko; Bender, Fernanda; Schwartz, Ida Vanessa Doederlein; Giugliani, RobertoTexto completo: acesso restrito. p. 603–607; Submitted by Edileide Reis (leyde-landy@hotmail.com) on 2014-02-18T14:15:01Z No. of bitstreams: 1 Angelina Xavier Acosta.pdf: 573475 bytes, checksum: ff2398be5885fcbb0b5cb9b8d18b74be (MD5); Approved for entry into archive by Flávia Ferreira (flaviaccf@yahoo.com.br) on 2014-11-28T15:51:33Z (GMT) No. of bitstreams: 1 Angelina Xavier Acosta.pdf: 573475 bytes, checksum: ...
Screening for MPS VI in a high-incidence area of Northeast Brazil: Report of th...
Segal, Sandra Leistner; Bender, Fernanda; Bochernitsan, Aline; Boa Sorte, Tatiana Regia Suzana Amorim; Acosta, Angelina Xavier; Motta, Fabiana CostaTexto completo. Acesso restrito. p. 60; Submitted by Santiago Fabio (fabio.ssantiago@hotmail.com) on 2013-07-04T17:20:00Z No. of bitstreams: 1 3333333333333333.pdf: 63743 bytes, checksum: d515459114b33b59e4c0fc8bbc0858ab (MD5); Approved for entry into archive by Rodrigo Meirelles (rodrigomei@ufba.br) on 2013-10-31T17:59:24Z (GMT) No. of bitstreams: 1 3333333333333333.pdf: 63743 bytes, checksum: d515459114b33b59...
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
Giugliani, Roberto; Federhen, Andressa; Rojas, Maria Verônica Muñoz; Acosta, Angelina Xavier; Bonfim, Carmen; Lourenço, Charles Marquesp.589-604; Submitted by Suelen Reis (suziy.ellen@gmail.com) on 2013-07-15T14:24:16Z No. of bitstreams: 1 2010-050.pdf: 140337 bytes, checksum: 8178891b23f375cc4f7fd8a9dca6b4ae (MD5); Approved for entry into archive by Rodrigo Meirelles (rodrigomei@ufba.br) on 2013-11-01T19:51:30Z (GMT) No. of bitstreams: 1 2010-050.pdf: 140337 bytes, checksum: 8178891b23f375cc4f7fd8a9dca6b4ae (MD5); Made available in DSpace on ...
Detection of metabolic disorders in high-risk patients: a pilot study in Salvad...
Pereira, Maria Betânia; Conceição, Gildásio Carvalho da; Coelho, Janice C.; Wajner, Moacir; Giugliani, Roberto; Pereira, Maria Betâniap.209-212; Submitted by Texeira Ana (atanateixeira@gmail.com) on 2012-05-10T19:31:24Z No. of bitstreams: 1 Pereira, Maria Betânia.pdf: 416259 bytes, checksum: 523fb4617fca70b4620e3f4e60433efc (MD5); Made available in DSpace on 2012-05-10T19:31:24Z (GMT). No. of bitstreams: 1 Pereira, Maria Betânia.pdf: 416259 bytes, checksum: 523fb4617fca70b4620e3f4e60433efc (MD5) Previous issue date: 1997; The purpose of this ...
Triagem neonatal para hiperfenilalaninemia: um estudo de coorte
Karam, Simone de Menezes; Jardim, Laura Bannach; Giugliani, Roberto; Horta, Bernardo LessaSubmitted by EDUARDO PENA (edupenaa@hotmail.com) on 2012-09-27T18:17:19Z No. of bitstreams: 1 Triagem neonatal para hiperfenilalaninemia um estudo de coorte.pdf: 360197 bytes, checksum: ca3a63979f054f7897c367e818739f8e (MD5); Approved for entry into archive by Gabriela Silva da Rosa(gabrielasilvadarosa@gmail.com) on 2012-11-06T11:49:40Z (GMT) No. of bitstreams: 1 Triagem neonatal para hiperfenilalaninemia um es...