Successful Screening for Gaucher Disease in a High-Prevalence Population in Tabuleiro do Norte (Northeastern Brazil): A Cross-Sectional Study

Author:

Chaves Rigoberto Gadelha,Coelho Janice Carneiro,Michelin-Tirelli Kristiane,Maurício Tibelle Freitas,de Freitas Maia Chaves Edineide,de Almeida Paulo César,Maurício Carlos Rômulo Filgueira,Cavalcanti Geraldo Barroso

Publisher

Springer Berlin Heidelberg

Cited by 7 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions;International Journal of Molecular Sciences;2024-06-16

2. Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1;Orphanet Journal of Rare Diseases;2022-12-21

3. Disorders of Mitochondrial Carriers;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2022

4. Variable treatment response in a patient with pyridoxal N phosphate oxidase (PNPO) deficiency- understanding the paradox;Epilepsy & Behavior Reports;2020

5. Clusters of genetic diseases in Brazil;Journal of Community Genetics;2018-06-02

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