Molecular genetics and metabolism最新文献_第10页

Newborn screening for six lysosomal diseases in the Brazilian population: The first year of experience in the Unified Health System of the Federal District, Brazil

IF 3.7 2区生物学

Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108691

Gerson Da Silva Carvalho, Fabrício M. Soares

引用次数: 0

Late diagnosis of Pompe disease in a patient with Down syndrome

IF 3.7 2区生物学

Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108709

Consuelo Durand, Maria Sol Voyame

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Mucopolysaccharidosis type VII (MPS VII): A novel, online GUSB gene variant database

IF 3.7 2区生物学

Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108696

Sean Daugherty , Takashi Hamazaki , Madhuri Hegde , Roberto Giugliani , Tippi C. MacKenzie , Lisa Dilworth , Mark J. Kiel , Omid Khazaie Japalaghi , Billie R. Lianoglou , Deborah Marsden , J. Lawrence Merritt , Tatiele Nalin , Vikram Pansare , Laura Pollard , Vanessa Rangel Miller , Heather Richbourg , Teresa N. Sparks , Nicole Miller

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Exploring the lived experiences and care perceptions of females living with Fabry disease in the US, Canada, and Japan

IF 3.7 2区生物学

Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108635

Julia Alton , Ikuko Kaku , Jerry Walter , Jack Johnson , Christopher J. Wingrove , Lisa Bashorum , Dusica Curcic , Nanae Goto , Jayne Gershkowitz

引用次数: 0

Predicting liver fibrosis in Gaucher disease: Investigation of contributors and development of a clinically applicable Gaucher liver fibrosis score. 预测戈谢病的肝纤维化：贡献者的调查和临床适用的戈谢肝纤维化评分的发展。

IF 3.7 2区生物学

Molecular genetics and metabolism Pub Date : 2025-02-01 Epub Date: 2025-01-03 DOI: 10.1016/j.ymgme.2025.109010

Rodrigo T Starosta, Lethicia Campos Ferraro, Gabriela Ponte de Mattos, Lucas Ferreira Teixeira, Fabiano de Oliveira Poswar, Matheus Michalczuk, Mário Reis Álvares-da-Silva, Ida Vanessa Doederlein Schwartz

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引用次数: 0

Ketone metabolic therapy to improve muscle function and coordination in a mouse model of infantile onset Pompe disease

IF 3.7 2区生物学

Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108693

Dominic P. D'Agostino, Angela Poff, Janine M. DeBlasi, Sara E. Moss, Natalya Thomas

引用次数: 0

Secondary mitochondrial dysfunction in three lysosomal disorders

IF 3.7 2区生物学

Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108701

Mollie Dewsbury , Heather J. Church , Simon A. Jones , Karolina M. Stepien , Iain P. Hargreaves

引用次数: 0

Algorithmic case finding approaches for Gaucher disease type 1 in primary care records

IF 3.7 2区生物学

Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108699

Patrick B. Deegan , Calum Grant , Elizabeth Morris , Rand Dubis , Amanda Worker , Hadley Mahon , Peter Fish

引用次数: 0

The bioactive potential of Rosa damascena mill: Preventive chelating effects and the role of ecosystem dynamics in inherited diseases

IF 3.7 2区生物学

Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108657

Abdelaati Berrachid , Karima Lafhal , Miloud Hammoud , Maroua Jakani , Samira Najeh , Imane Assiri , M.Y. Ahmed el amiri , Naima Fdil

引用次数: 0

Will rapid administration of enzyme replacement therapy impact patients' satisfaction?

IF 3.7 2区生物学

Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108654

Michal Becker-Cohen , Shoshana Revel-Vilk , Dafna Frydman , Tama Dinur , Ma'ayan Tiomkin , Naama Arbel , Ari Zimran

引用次数: 0