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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
{"title":"Ketone metabolic therapy to improve muscle function and coordination in a mouse model of infantile onset Pompe disease","authors":"Dominic P. D'Agostino, Angela Poff, Janine M. DeBlasi, Sara E. Moss, Natalya Thomas","doi":"10.1016/j.ymgme.2024.108693","DOIUrl":"10.1016/j.ymgme.2024.108693","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108693"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143133482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
{"title":"Secondary mitochondrial dysfunction in three lysosomal disorders","authors":"Mollie Dewsbury , Heather J. Church , Simon A. Jones , Karolina M. Stepien , Iain P. Hargreaves","doi":"10.1016/j.ymgme.2024.108701","DOIUrl":"10.1016/j.ymgme.2024.108701","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108701"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143133993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
{"title":"Algorithmic case finding approaches for Gaucher disease type 1 in primary care records","authors":"Patrick B. Deegan , Calum Grant , Elizabeth Morris , Rand Dubis , Amanda Worker , Hadley Mahon , Peter Fish","doi":"10.1016/j.ymgme.2024.108699","DOIUrl":"10.1016/j.ymgme.2024.108699","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108699"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143133995","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
{"title":"The bioactive potential of Rosa damascena mill: Preventive chelating effects and the role of ecosystem dynamics in inherited diseases","authors":"Abdelaati Berrachid , Karima Lafhal , Miloud Hammoud , Maroua Jakani , Samira Najeh , Imane Assiri , M.Y. Ahmed el amiri , Naima Fdil","doi":"10.1016/j.ymgme.2024.108657","DOIUrl":"10.1016/j.ymgme.2024.108657","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108657"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143135165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
{"title":"Will rapid administration of enzyme replacement therapy impact patients' satisfaction?","authors":"Michal Becker-Cohen , Shoshana Revel-Vilk , Dafna Frydman , Tama Dinur , Ma'ayan Tiomkin , Naama Arbel , Ari Zimran","doi":"10.1016/j.ymgme.2024.108654","DOIUrl":"10.1016/j.ymgme.2024.108654","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108654"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143135166","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Arimoclomol safety profile in the treatment of Niemann-Pick disease type C in a real-world setting: Long-term safety data from an expanded access program in the United States
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108721
Can Ficicioglu , Elizabeth Berry-Kravis , Walla Al-Hertani , Raymond Y. Wang , Marc Patterson , Loren Pena , Kristina Julich , Damara Ortiz , Paula Schleifer , Paul Hillman , Caroline A. Hastings , Blair Orr , Ronan J. O'Reilly , Daniel Gallo
{"title":"Arimoclomol safety profile in the treatment of Niemann-Pick disease type C in a real-world setting: Long-term safety data from an expanded access program in the United States","authors":"Can Ficicioglu , Elizabeth Berry-Kravis , Walla Al-Hertani , Raymond Y. Wang , Marc Patterson , Loren Pena , Kristina Julich , Damara Ortiz , Paula Schleifer , Paul Hillman , Caroline A. Hastings , Blair Orr , Ronan J. O'Reilly , Daniel Gallo","doi":"10.1016/j.ymgme.2024.108721","DOIUrl":"10.1016/j.ymgme.2024.108721","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108721"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173020","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
FollowME Fabry Pathfinders registry: Patient-reported outcomes in a cohort of patients on migalastat treatment for median 4 years
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108718
Ulla Feldt-Rasmussen , Gere Sunder-Plassmann , Aneal Khan , Biliana O. Veleva-Rotse , Joseph D. Giuliano , Hai Jiang , Vipul Jain , Jasmine Rutecki , Aleš Linhart
{"title":"FollowME Fabry Pathfinders registry: Patient-reported outcomes in a cohort of patients on migalastat treatment for median 4 years","authors":"Ulla Feldt-Rasmussen , Gere Sunder-Plassmann , Aneal Khan , Biliana O. Veleva-Rotse , Joseph D. Giuliano , Hai Jiang , Vipul Jain , Jasmine Rutecki , Aleš Linhart","doi":"10.1016/j.ymgme.2024.108718","DOIUrl":"10.1016/j.ymgme.2024.108718","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108718"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173022","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Treatment satisfaction in patients with Fabry disease: Patient-reported outcomes from the followME Fabry Pathfinders registry and the SATIS-Fab study
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108717
Ulla Feldt-Rasmussen , Aleš Linhart , Biliana O. Veleva-Rotse , Joseph D. Giuliano , Hai Jiang , Vipul Jain , Caroline Martinez , Olivier Lidove
{"title":"Treatment satisfaction in patients with Fabry disease: Patient-reported outcomes from the followME Fabry Pathfinders registry and the SATIS-Fab study","authors":"Ulla Feldt-Rasmussen , Aleš Linhart , Biliana O. Veleva-Rotse , Joseph D. Giuliano , Hai Jiang , Vipul Jain , Caroline Martinez , Olivier Lidove","doi":"10.1016/j.ymgme.2024.108717","DOIUrl":"10.1016/j.ymgme.2024.108717","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108717"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploring global access challenges for Niemann-Pick disease therapies: Insights from an INDPA survey
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108689
Sandra Cowie , Toni Mathieson
{"title":"Exploring global access challenges for Niemann-Pick disease therapies: Insights from an INDPA survey","authors":"Sandra Cowie , Toni Mathieson","doi":"10.1016/j.ymgme.2024.108689","DOIUrl":"10.1016/j.ymgme.2024.108689","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108689"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173885","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Age-related inflammatory markers and early-onset osteoporosis in women with Gaucher disease
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108695
Julia Dao, Fang Huang, Ozlem Goker-Alpan, Margarita Ivanova
{"title":"Age-related inflammatory markers and early-onset osteoporosis in women with Gaucher disease","authors":"Julia Dao, Fang Huang, Ozlem Goker-Alpan, Margarita Ivanova","doi":"10.1016/j.ymgme.2024.108695","DOIUrl":"10.1016/j.ymgme.2024.108695","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108695"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173887","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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