Danon Disease in an Asymptomatic Woman: A Five-Year Follow Up

Autor: Matos, Ricardo Cardoso de, Soares, Amanda Cunha, Silva, Raquel Tavares Boy da, Mesquita, Evandro Tinoco

Publikováno v: International Journal of Cardiovascular Sciences, Volume: 35, Issue: 5, Pages: 681-686, Published: 28 FEB 2022
International Journal of Cardiovascular Sciences v.35 n.5 2022
International Journal of Cardiovascular Sciences
Sociedade Brasileira de Cardiologia (SBC)
instacron:SBC
International Journal of Cardiovascular Sciences, Issue: ahead, Published: 28 FEB 2022

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::12a3b2858f990f5f3417bec020339f4b
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-56472022000500681&lng=en&tlng=en

Additional file 2 of Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

Autor: Margutti, Ana Vitoria Barban, Silva, Wilson Araújo, Garcia, Daniel Fantozzi, Molfetta, Greice Andreotti De, Marques, Adriana Aparecida, Amorim, Tatiana, Prazeres, Vânia Mesquita Gadelha, Silva, Raquel Tavares Boy Da, Miura, Irene Kazue, Neto, João Seda, Santos, Emerson De Santana, Santos, Mara Lúcia Schmitz Ferreira, Lourenço, Charles Marques, Tonon, Tássia, Sperb-Ludwig, Fernanda, Souza, Carolina Fischinger Moura De, Schwartz, Ida Vanessa Döederlein, Camelo, José Simon

Additional file 2. Primers sequences, PCR conditions and amplified fragment sizes of the BCKDHB gene. Description of data: Primer location, primer sequences, Annealing Temperature and amplified fragment sizes (amplicon size) of the BCKDHB gene.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ceaa41d947b2c1dca02bd5fe531cd0a

Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment

Autor: GIUGLIANI, Roberto, FEDERHEN, Andressa, MUÑOZ ROJAS, Maria Verónica, VIEIRA, Taiane Alves, ARTIGALÁS, Osvaldo Alfonso Pinto, PINTO, Louise Lapagesse de Carmargo, AZEVEDO, Ana Cecília Medeiros Mano, ACOSTA, Angelina Xavier, BONFIM, Carmem Maria Sales, LOURENÇO, Charles Marques, KIM, Chong Ae, HOROVITZ, Denize Bonfim, NORATO, Denise Yvonne Janovitz, MARINHO, Diane Ruschel, PALHARES, Durval Batista, SANTOS, Emerson Santana, RIBEIRO, Erlane Marques, VALADARES, Eugênia Ribeiro, GUARANY, Fábio Coelho, LUCCA, Gisele Rosone de, PIMENTEL, Helena, SOUZA, Isabel Cristina Neves de, CORRÊA NETO, Jordão, FRAGA, José Carlos, GÓES, José Eduardo Coutinho, CABRAL, José Maria, SIMIONATO, José, LLERENA JUNIOR, Juan Clinton, JARDIM, Laura Bannach, GIULIANI, Liane de Rosso, SILVA, Luiz Carlos Santana da, SANTOS, Mara Lucia Schmitz Ferreira, MOREIRA, Maria Ângela, KERSTENETZKY, Marcelo Soares, RIBEIRO, Márcia Gonçalves, GUARANY, Nicole Ruas, BARRIOS, Patricia Martins Moura, ARANDA, Paulo Cesar, HONJO, Rachel Sayuri, SILVA, Raquel Tavares Boy da, COSTA, Ronaldo, SOUZA, Carolina Fishinger Moura de, ALCANTARA, Flavio Ferraz de Paes e, AVILLA, Sylvio Gilberto Andrade, FAGONDES, Simone Chaves, MARTINS, Ana Maria

Publikováno v: Repositório Institucional da UFPA
Universidade Federal do Pará (UFPA)
instacron:UFPA

Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tiss

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::652a00b04213c2d68f52c2c3fe1b575e
http://repositorio.ufpa.br/jspui/handle/2011/5137