Zobrazeno 1 - 10 of 14 pro vyhledávání: '"Laura Vagnini"'
1
Akademický článek
Deficiência de Lipase Ácida Lisossômica (LAL): análise enzimática em papel-filtro como ferramenta diagnóstica em paciente com diagnóstico prévio de doença de Niemann-Pick tipo C
Autor: Marcella Borges, Luissa Hikari Hayashi Araujo, Bruno Lima, Laura Vagnini, Alberto Salles, Guerino Pelicer Neto-Magalhães, João Paulo Cristofolo, João Paulo Freitas, Pedro Ivo Aranas, Jacqueline Harouche Rodrigues Fonseca, Fernanda Seabra Souza Timm, Charles Marques Lourenço
Publikováno v: Residência Pediátrica, Vol 13, Iss 3 (2023)
INTRODUCTION: 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
Externí odkaz: https://doaj.org/article/bcd188035acd44a1b0d5853664b7191a
Zobrazit plný text záznamu
2
Akademický článek
Síndrome cérebro-pulmão-tireoide: tratamento e prognóstico com o uso de cloridrato de metilfenidato
Autor: Barbara Bianchi, Camila Diniz Gil, Laura Vagnini, Jacqueline Harouche Rodrigues Fonseca
Publikováno v: Residência Pediátrica, Vol 13, Iss 1 (2023)
INTRODUCTION: The “brain-lung-thyroid syndrome” is caused by mutations in the NKX2-1 gene, which encodes the thyroid transcription factor 1, and is characterized by widely diverse clinical manifestations: choreic movements, respiratory disorders
Externí odkaz: https://doaj.org/article/09285d5b19ed4604a03bf21dd1bb4411
Zobrazit plný text záznamu
3
Akademický článek
Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil
Autor: Charles Marques Lourenço, Janaina Dovidio, Isabela F. Lopes, Laís C. Silva, Marcela Almeida, Laura Vagnini, Jacqueline Fonseca, Zumira A. Carneiro, Beat Thöny
Publikováno v: JIMD Reports, Vol 61, Iss 1, Pp 19-24 (2021)
Abstract Tetrahydrobiopterin (BH4) is a cofactor that participates in the biogenesis reactions of a variety of biomolecules, including l‐tyrosine, l‐3,4‐dihydroxyphenylalanine, 5‐hydroxytryptophan, nitric oxide, and glycerol. Dihydropteridine
Externí odkaz: https://doaj.org/article/7b828b4eb5b847499bedf6164e4f39a5
Zobrazit plný text záznamu
4
Lysosomal Acid Lipase ( LAL) Deficiency: Enzyme Assay on Dried Blood Spot as Diagnostic Tool in a Patient Misdiagnosed as Niemann-Pick type C Disease
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
Zobrazit plný text záznamu
5
Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil
Autor: Beat Thöny, Zumira Aparecida Carneiro, Marcela Almeida, Isabela F. Lopes, Laura Vagnini, Laís C. Silva, Jacqueline Fonseca, Charles Marques Lourenço, Janaina Dovidio
Publikováno v: JIMD Reports
JIMD Reports, Vol 61, Iss 1, Pp 19-24 (2021)
Tetrahydrobiopterin (BH4) is a cofactor that participates in the biogenesis reactions of a variety of biomolecules, including l‐tyrosine, l‐3,4‐dihydroxyphenylalanine, 5‐hydroxytryptophan, nitric oxide, and glycerol. Dihydropteridine reductas
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f9e3255be6f53f36392b9f4849fe8ae
https://doi.org/10.1002/jmd2.12224
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje