Difficulties in the Diagnosis of Gaucher Disease in a Low-Income Country: A Case Report from Mozambique

Autor: Félix Pinto, Ema Nassone, Muhammad Ismail, Astrilde Jamisse, Francyne Kubaski, Ana Carolina Brusius-Facchin, Roberto Giugliani, Luís Madeira, Fabíola Fernandes

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

Abstract Introduction: Gaucher disease (GD) is one of the common lysosomal storage disorder (LSD) with an estimated frequency of one in 40,000 newborns globally. GD is an autosomal recessive condition, which results from mutations in the GBA1 gene, c

Externí odkaz: https://doaj.org/article/2abcef32583c4f1694c33ddc0560e5a3

Difficulties in the Diagnosis of Gaucher Disease in a Low-Income Country: A Case Report from Mozambique

Autor: Fabiola Fernandes, Luís Madeira, Roberto Giugliani, Astrilde Jamisse, Ana Carolina Brusius-Facchin, Ema Nassone, Muhammad Ismail, Francyne Kubaski, Félix Pinto

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20200022, Published: 12 FEB 2021

Introduction: Gaucher disease (GD) is one of the common lysosomal storage disorder (LSD) with an estimated frequency of one in 40,000 newborns globally. GD is an autosomal recessive condition, which results from mutations in the GBA1 gene, causing pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::769c96235cc5c84e2b05656c37ca7c0d
https://doi.org/10.1590/2326-4594-jiems-2020-0022