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Could the microbiota contribute to the symptomatology of Sanfilippo syndrome? A report in two affected siblings
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108645
José Avendaño-Ortiz , Raquel Barbero Herranz , Guillem Pintos Morell , Esther Palacios , Ana Moreno Blanco , Beatriz Arconada , Pedro Ruiz-Sala , Amaya Belanger-Quintana , Sinziana Stanescu , María Garriga-García , Rosa Del Campo
{"title":"Could the microbiota contribute to the symptomatology of Sanfilippo syndrome? A report in two affected siblings","authors":"José Avendaño-Ortiz , Raquel Barbero Herranz , Guillem Pintos Morell , Esther Palacios , Ana Moreno Blanco , Beatriz Arconada , Pedro Ruiz-Sala , Amaya Belanger-Quintana , Sinziana Stanescu , María Garriga-García , Rosa Del Campo","doi":"10.1016/j.ymgme.2024.108645","DOIUrl":"10.1016/j.ymgme.2024.108645","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108645"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143172903","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
Neurological outcome following unrelated donor hematopoietic stem cell transplantation in children with juvenile globoid cell leukodystrophy: A long term study
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108720
Giulia Ferrera , Sara Napolitano , Davide Sebastiano Rossi , Claudia Ciano , Laura Farina , Isabella Moroni , Alessandro Rovelli , Anna Ardissone
{"title":"Neurological outcome following unrelated donor hematopoietic stem cell transplantation in children with juvenile globoid cell leukodystrophy: A long term study","authors":"Giulia Ferrera , Sara Napolitano , Davide Sebastiano Rossi , Claudia Ciano , Laura Farina , Isabella Moroni , Alessandro Rovelli , Anna Ardissone","doi":"10.1016/j.ymgme.2024.108720","DOIUrl":"10.1016/j.ymgme.2024.108720","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108720"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173019","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
Neonatal screening for Fabry disease and long-term follow-up: The role of plasma globotriaosylsphingosine (LysoGb3) assay
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108668
Alberto B. Burlina , Vincenza Gragnaniello , Dana Velasquez Rivas , Elena Porcù , Alessandro P. Burlina
{"title":"Neonatal screening for Fabry disease and long-term follow-up: The role of plasma globotriaosylsphingosine (LysoGb3) assay","authors":"Alberto B. Burlina , Vincenza Gragnaniello , Dana Velasquez Rivas , Elena Porcù , Alessandro P. Burlina","doi":"10.1016/j.ymgme.2024.108668","DOIUrl":"10.1016/j.ymgme.2024.108668","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108668"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173250","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
Challenges of disease severity prediction in an MPS II asymptomatic individual with a novel IDS variant: A unique NBS case with familial mosaicism
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108686
Kristin Clinard, Nitya Yerraguntla, Lindsay Torrice, Sarah Bennick, Leigh Anne Weisenfeld, Elizabeth Jalazo, Joseph Muenzer
{"title":"Challenges of disease severity prediction in an MPS II asymptomatic individual with a novel IDS variant: A unique NBS case with familial mosaicism","authors":"Kristin Clinard, Nitya Yerraguntla, Lindsay Torrice, Sarah Bennick, Leigh Anne Weisenfeld, Elizabeth Jalazo, Joseph Muenzer","doi":"10.1016/j.ymgme.2024.108686","DOIUrl":"10.1016/j.ymgme.2024.108686","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108686"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173270","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
Fatal intracranial hemorrhage in acid sphingomyelinase deficiency: A case report highlighting the role of managing comorbidities
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108685
Kristin Clinard, Ansley Mills, Elizabeth Jalazo, Michael Adams
{"title":"Fatal intracranial hemorrhage in acid sphingomyelinase deficiency: A case report highlighting the role of managing comorbidities","authors":"Kristin Clinard, Ansley Mills, Elizabeth Jalazo, Michael Adams","doi":"10.1016/j.ymgme.2024.108685","DOIUrl":"10.1016/j.ymgme.2024.108685","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108685"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173271","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
Mild Gaucher disease genotype is associated with more pronounced progress of pathologic midbrain sonography in the Sidransky syndrome
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108703
Tama Dinur , Michal Becker-Cohen , Majdolen Joleen Istaiti , Maayan Tiomkin , Arndt Rolfs , Shoshana Revel-Vilk , Ari Zimran
{"title":"Mild Gaucher disease genotype is associated with more pronounced progress of pathologic midbrain sonography in the Sidransky syndrome","authors":"Tama Dinur , Michal Becker-Cohen , Majdolen Joleen Istaiti , Maayan Tiomkin , Arndt Rolfs , Shoshana Revel-Vilk , Ari Zimran","doi":"10.1016/j.ymgme.2024.108703","DOIUrl":"10.1016/j.ymgme.2024.108703","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108703"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143174257","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 the demographics of the diagnosed Fabry disease population in Canada
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108636
Julia Alton , Christopher J. Wingrove , Jayne Gershkowitz , Dusica Curcic
{"title":"Exploring the demographics of the diagnosed Fabry disease population in Canada","authors":"Julia Alton , Christopher J. Wingrove , Jayne Gershkowitz , Dusica Curcic","doi":"10.1016/j.ymgme.2024.108636","DOIUrl":"10.1016/j.ymgme.2024.108636","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108636"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143128819","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
Enzyme replacement therapy (ERT) combined with transient low-dose methotrexate (TLD-MTX) results in age- and disease-dependent immune profile changes in infantile- vs. late-onset Pompe disease patients
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108637
Parisa Amirifar, Ankit K. Desai, Seung-Hye Jung, Cheng Lu, Trevor D. Burt, Priya Kishnani
{"title":"Enzyme replacement therapy (ERT) combined with transient low-dose methotrexate (TLD-MTX) results in age- and disease-dependent immune profile changes in infantile- vs. late-onset Pompe disease patients","authors":"Parisa Amirifar, Ankit K. Desai, Seung-Hye Jung, Cheng Lu, Trevor D. Burt, Priya Kishnani","doi":"10.1016/j.ymgme.2024.108637","DOIUrl":"10.1016/j.ymgme.2024.108637","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108637"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143130653","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
Measuring non-reducing terminal glycosaminoglycan fragments increases specificity and differentiates mucopolysaccharidosis type I (MPS I) from mucopolysaccharidosis type II (MPS II)
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108706
Taraka R. Donti, Sara Smith, Madeline Ellgass, P.J. Borandi
{"title":"Measuring non-reducing terminal glycosaminoglycan fragments increases specificity and differentiates mucopolysaccharidosis type I (MPS I) from mucopolysaccharidosis type II (MPS II)","authors":"Taraka R. Donti, Sara Smith, Madeline Ellgass, P.J. Borandi","doi":"10.1016/j.ymgme.2024.108706","DOIUrl":"10.1016/j.ymgme.2024.108706","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108706"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143132155","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
Engaging patients and Patient Advocacy Organizations (PAOs) in the rare disease drug development process
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108722
Kathleen Flynn, Diana Jussila
{"title":"Engaging patients and Patient Advocacy Organizations (PAOs) in the rare disease drug development process","authors":"Kathleen Flynn, Diana Jussila","doi":"10.1016/j.ymgme.2024.108722","DOIUrl":"10.1016/j.ymgme.2024.108722","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108722"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143172794","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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