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What is in store for Pompe disease therapy?
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108704
Hung Do, Kylie Gray, Naresh Kumar Meena, Michael DiGruccio, Emilee Statzer, Jonathan Roberts, Riley Marcinczyk, Linda Lyons, Nina Raben, Russell Gotschall
{"title":"What is in store for Pompe disease therapy?","authors":"Hung Do, Kylie Gray, Naresh Kumar Meena, Michael DiGruccio, Emilee Statzer, Jonathan Roberts, Riley Marcinczyk, Linda Lyons, Nina Raben, Russell Gotschall","doi":"10.1016/j.ymgme.2024.108704","DOIUrl":"10.1016/j.ymgme.2024.108704","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108704"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143174256","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
Qualitative assessment of the validity and standardization of the swallow domain in the 5-Domain Niemann-Pick disease type C (NPC) Clinical Severity Scale (5DNPCCSS) and analysis in an NPC clinical trial data set
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108659
Elizabeth Berry-Kravis , Lisa A. LaGorio , Christine I. Dali , Daniel Gallo
{"title":"Qualitative assessment of the validity and standardization of the swallow domain in the 5-Domain Niemann-Pick disease type C (NPC) Clinical Severity Scale (5DNPCCSS) and analysis in an NPC clinical trial data set","authors":"Elizabeth Berry-Kravis , Lisa A. LaGorio , Christine I. Dali , Daniel Gallo","doi":"10.1016/j.ymgme.2024.108659","DOIUrl":"10.1016/j.ymgme.2024.108659","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108659"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143128693","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
Parent-reported disease burden in Krabbe disease: Evaluating outcomes of hematopoietic stem cell transplant
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108650
Nicholas A. Bascou , Patti A. Engel , Skyler Jackson , Paul J. Orchard , Stacy L. Pike-Langenfeld
{"title":"Parent-reported disease burden in Krabbe disease: Evaluating outcomes of hematopoietic stem cell transplant","authors":"Nicholas A. Bascou , Patti A. Engel , Skyler Jackson , Paul J. Orchard , Stacy L. Pike-Langenfeld","doi":"10.1016/j.ymgme.2024.108650","DOIUrl":"10.1016/j.ymgme.2024.108650","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108650"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171893","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
Genome-edited autologous stem cell transplantation with enhanced brain conditioning to correct progranulin deficiency
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108687
Pasqualina Colella , Maria V. Suarez-Nieto , Eduardo Tejeda-Polanco , Luisa N. Pimentel Vera , Edina Poletto , Jessica Arozqueta Basurto , Natalia Gomez-Ospina
{"title":"Genome-edited autologous stem cell transplantation with enhanced brain conditioning to correct progranulin deficiency","authors":"Pasqualina Colella , Maria V. Suarez-Nieto , Eduardo Tejeda-Polanco , Luisa N. Pimentel Vera , Edina Poletto , Jessica Arozqueta Basurto , Natalia Gomez-Ospina","doi":"10.1016/j.ymgme.2024.108687","DOIUrl":"10.1016/j.ymgme.2024.108687","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108687"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173269","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
North Carolina experience with newborn screening for mucopolysaccharidosis type II (Hunter syndrome)
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108684
Kristin Clinard , Katerina Kucera , Samantha Blake , Veronica Copeland , Brooke Migliore , Lindsay Torrice , Julia Apoian , Kirstyn Tober , Evan Thorp , Kimberly Blake , Deeksha Bali , Dee Pettit , Javan Carter , Scott Shone , Lisa Gehtland , Elizabeth Jalazo , Sarah Young , Catherine Rehder , Joseph Muenzer , Melissa Raspa
{"title":"North Carolina experience with newborn screening for mucopolysaccharidosis type II (Hunter syndrome)","authors":"Kristin Clinard , Katerina Kucera , Samantha Blake , Veronica Copeland , Brooke Migliore , Lindsay Torrice , Julia Apoian , Kirstyn Tober , Evan Thorp , Kimberly Blake , Deeksha Bali , Dee Pettit , Javan Carter , Scott Shone , Lisa Gehtland , Elizabeth Jalazo , Sarah Young , Catherine Rehder , Joseph Muenzer , Melissa Raspa","doi":"10.1016/j.ymgme.2024.108684","DOIUrl":"10.1016/j.ymgme.2024.108684","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108684"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173881","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
Assessment of trace elements in the serum of epileptic patients with inherited metabolic diseases: Focus on zinc and copper
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108711
Sana El Foutat , Karima Lafhal , Abdelaati Berrachid , Samira Najeh , Maroua Jakani , Imane Assiri , Miloud Hammoud , Abdelaati El Khiat , Naima Fdil
{"title":"Assessment of trace elements in the serum of epileptic patients with inherited metabolic diseases: Focus on zinc and copper","authors":"Sana El Foutat , Karima Lafhal , Abdelaati Berrachid , Samira Najeh , Maroua Jakani , Imane Assiri , Miloud Hammoud , Abdelaati El Khiat , Naima Fdil","doi":"10.1016/j.ymgme.2024.108711","DOIUrl":"10.1016/j.ymgme.2024.108711","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108711"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143174260","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
Non-clinical evaluation of 4D-310 in combination with rituximab/sirolimus: A translational study to support adoption of a novel prophylactic immunomodulation regimen in clinical trials in adults with Fabry disease
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108674
Melissa A. Calton, Joshua Holter, Caralee J. Schaefer, Theodore Sullivan, Samantha Jensen, Ed Kim, An Song
{"title":"Non-clinical evaluation of 4D-310 in combination with rituximab/sirolimus: A translational study to support adoption of a novel prophylactic immunomodulation regimen in clinical trials in adults with Fabry disease","authors":"Melissa A. Calton, Joshua Holter, Caralee J. Schaefer, Theodore Sullivan, Samantha Jensen, Ed Kim, An Song","doi":"10.1016/j.ymgme.2024.108674","DOIUrl":"10.1016/j.ymgme.2024.108674","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108674"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143174266","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
Hematopoietic stem cell gene therapy for mucopolysaccharidosis type I—Hurler syndrome (OTL-203): Interim skeletal, neurological and systemic outcomes from a phase I/II study
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108655
Maria Ester M. Bernardo , Francesca Tucci , Giulia Consiglieri , Maria Luz Uria Oficialdegui , Francesca Fumagalli , Maurizio De Pellegrin , Matilde Cossutta , Chiara Filisetti , Maria Pia Manitto , Carla Butera , Giulia Dané , Chiara Camesasca , Rossella Parini , Mireia Del Toro Riera , Cristina Diaz de Heredia , Alessandro Aiuti
{"title":"Hematopoietic stem cell gene therapy for mucopolysaccharidosis type I—Hurler syndrome (OTL-203): Interim skeletal, neurological and systemic outcomes from a phase I/II study","authors":"Maria Ester M. Bernardo , Francesca Tucci , Giulia Consiglieri , Maria Luz Uria Oficialdegui , Francesca Fumagalli , Maurizio De Pellegrin , Matilde Cossutta , Chiara Filisetti , Maria Pia Manitto , Carla Butera , Giulia Dané , Chiara Camesasca , Rossella Parini , Mireia Del Toro Riera , Cristina Diaz de Heredia , Alessandro Aiuti","doi":"10.1016/j.ymgme.2024.108655","DOIUrl":"10.1016/j.ymgme.2024.108655","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108655"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143134573","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
Preimplantation genetic testing (PGT) to reduce the risk for GBA-related Parkinson disease: Expanding of applications for embryo selection
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108634
Gheona Altarescu, Ari Zimran, Shachar Zuckerman, Shoshana Revel-Vilk
{"title":"Preimplantation genetic testing (PGT) to reduce the risk for GBA-related Parkinson disease: Expanding of applications for embryo selection","authors":"Gheona Altarescu, Ari Zimran, Shachar Zuckerman, Shoshana Revel-Vilk","doi":"10.1016/j.ymgme.2024.108634","DOIUrl":"10.1016/j.ymgme.2024.108634","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108634"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143128817","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
Screening of alpha-mannosidosis in patients with suspected mucopolysaccharidosis (MPS) who tested negative for MPS in a Brazilian reference center
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108702
Gabrielle Dineck Iop , Layzon Antonio Lemos da Silva , Larissa Faqueti , Henrique B.L. Borges , Marina H. Lopes , Marcelo Kerstenetzky , Kristiane M. Tirelli , Inamara Moraes , Franciele B. Trapp , Ana C. Brusius Facchin , Mariluce Riegel-Giugliani , Roberto Giugliani
{"title":"Screening of alpha-mannosidosis in patients with suspected mucopolysaccharidosis (MPS) who tested negative for MPS in a Brazilian reference center","authors":"Gabrielle Dineck Iop , Layzon Antonio Lemos da Silva , Larissa Faqueti , Henrique B.L. Borges , Marina H. Lopes , Marcelo Kerstenetzky , Kristiane M. Tirelli , Inamara Moraes , Franciele B. Trapp , Ana C. Brusius Facchin , Mariluce Riegel-Giugliani , Roberto Giugliani","doi":"10.1016/j.ymgme.2024.108702","DOIUrl":"10.1016/j.ymgme.2024.108702","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108702"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143133483","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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