Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Charles Lourenco"'
Autor:
Charles Lourenco, Amadeu Queiroz, Lilian Sansao, Regina Albuquerque, Jacqueline Fonseca, Erica Coelho, Maria da Penha Ananias Morita, Eduardo Estephan
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100892- (2024)
Externí odkaz:
https://doaj.org/article/7eb30e5c90af424497f21de97dfb43ae
Autor:
Charles Lourenco, Regina Albuquerque, Lilian Sansao, Renan Campi, Debora Tomaz, Jacqueline Fonseca
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100035- (2023)
Externí odkaz:
https://doaj.org/article/4c9dcfb5844c4da98a6c1bc27fa0befe
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100034- (2023)
Externí odkaz:
https://doaj.org/article/116d9d296b614db495ea7400163cc3db
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100264- (2023)
Externí odkaz:
https://doaj.org/article/aba7ba2d4f1c4f1595ee16d222aa7f64
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100263- (2023)
Externí odkaz:
https://doaj.org/article/58754d38ecd54f5baa939c567b3c7b46
Autor:
Hana Alharbi, Earnest James Paul Daniel, Jenny Thies, Irene Chang, Dana L. Goldner, Bobby G. Ng, Peter Witters, Amal Aqul, Frances Velez‐Bartolomei, Gregory M. Enns, Evelyn Hsu, Elizabeth Kichula, Esther Lee, Charles Lourenco, Sheri A. Poskanzer, Sara Rasmussen, Katelyn Saarela, YunZu M. Wang, Kimiyo M. Raymond, Matthew J. Schultz, Hudson H. Freeze, Christina Lam, Andrew C. Edmondson, Miao He
Publikováno v:
J Inherit Metab Dis
ATP6AP1-CDG is an X-linked disorder typically characterized by hepatopathy, immunodeficiency and an abnormal type II transferrin glycosylation pattern. Here, we present eleven new patients and clinical updates with biochemical characterization on one
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6be999f0b3a105c52b720c970f8e207
https://europepmc.org/articles/PMC10047170/
https://europepmc.org/articles/PMC10047170/
Autor:
Marcella Borges, Luissa Araujo, Bruno Lima, Laura Vagnini, Alberto Salles, Guerino Magalhaes, Joao Cristofolo, Joao Freitas, Pedro Aranas, Jacqueline Fonseca, Fernanda Timm, Charles Lourenco
Publikováno v:
Residência Pediátrica.
Lysosomal acid lipase deficiency (LAL-D) is a lysosomal storage disorder involved in cholesterol ester metabolism. It is a poorly understood genetic cause of cirrhosis, dyslipidemia and premature atherosclerotic disease in children and adults. As the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f1ac14c557ab7ab7cda1123ead8f5702
https://doi.org/10.25060/residpediatr-2023-631
https://doi.org/10.25060/residpediatr-2023-631
Autor:
Charles Lourenco, Regina Albuquerque, Amadeu Queiroz, Lilian Sansao, Jacqueline Fonseca, Erlane Ribeiro, Ieda Bussman
Publikováno v:
Molecular Genetics and Metabolism. 138:107449
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::937b65f844b7796600009aa2c9e713d8
https://doi.org/10.1016/j.ymgme.2023.107449
https://doi.org/10.1016/j.ymgme.2023.107449
Publikováno v:
Residência Pediátrica. 11
Erythropoietic protoporphyria (EPP) is a metabolic error in the biosynthesis of the heme group, the enzyme ferrochelatase (FEHC) deficiency culminates in the excessive accumulation of free protoporphyrin in erythroid cells, plasma, skin, and liver. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::73328fec397f21a20fcf60da0f03eb1c
https://doi.org/10.25060/residpediatr-2021.v11n2-149
https://doi.org/10.25060/residpediatr-2021.v11n2-149
Publikováno v:
Residência Pediátrica. 11
OBJECTIVES: Promote the early detection of the disease through pertinent clinical findings in patients with mucopolysaccharidosis. CASE REPORT: Patient with MPS I with typical clinical signs of the disease from a very early age were diagnosed only at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3e4939ccc4dd3c8da93e4a1600d129dd
https://doi.org/10.25060/residpediatr-2021.v11n3-200
https://doi.org/10.25060/residpediatr-2021.v11n3-200