Pub Date : 2024-04-01DOI: 10.1016/j.ymgme.2024.108306
C. Lourenco, Regina Albuquerque, J. Fonseca, Erica Coelho, A. Queiroz, Maria Morita, E. Estephan, Lilian Sansão, Thamy Fagundes, Daniela Aguiar
{"title":"“Cassandra Curse” or a modern “Sisyphus Burden”? Recurrent attacks in a cohort of Brazilian patients with acute hepatic porphyrias","authors":"C. Lourenco, Regina Albuquerque, J. Fonseca, Erica Coelho, A. Queiroz, Maria Morita, E. Estephan, Lilian Sansão, Thamy Fagundes, Daniela Aguiar","doi":"10.1016/j.ymgme.2024.108306","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108306","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140760116","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}
Pub Date : 2024-04-01DOI: 10.1016/j.ymgme.2024.108258
Ethan J. Schwartz, N. Longo, Sue Perera, C. Dionisi-Vici, Mary Leuchars, Andrew Burrow, Temitayo Ajayi, J. de las Heras, Geetanjoli Banerjee, Carlos Prada, M. A. Bellenger, O. Moshkovich, Vanja Sikirica
{"title":"Development of a metabolic decompensation event severity score for patients with propionic acidemia or methylmalonic acidemia","authors":"Ethan J. Schwartz, N. Longo, Sue Perera, C. Dionisi-Vici, Mary Leuchars, Andrew Burrow, Temitayo Ajayi, J. de las Heras, Geetanjoli Banerjee, Carlos Prada, M. A. Bellenger, O. Moshkovich, Vanja Sikirica","doi":"10.1016/j.ymgme.2024.108258","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108258","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140764662","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}
Pub Date : 2024-04-01DOI: 10.1016/j.ymgme.2024.108276
Chelsea Zimmerman, Hui Pang, Yazmin Enchautegui-Colon
{"title":"Heterzygous GLDC variant in a patient with biochemical and clinical findings of nonketotic hyperglycinemia (NKH)","authors":"Chelsea Zimmerman, Hui Pang, Yazmin Enchautegui-Colon","doi":"10.1016/j.ymgme.2024.108276","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108276","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140772786","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}
Pub Date : 2024-04-01DOI: 10.1016/j.ymgme.2024.108259
Meriah S. Schoen, Rani Singh
{"title":"Metabolic adaptations with sustained pegvaliase therapy in adults with phenylketonuria","authors":"Meriah S. Schoen, Rani Singh","doi":"10.1016/j.ymgme.2024.108259","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108259","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140769922","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}
Pub Date : 2024-04-01DOI: 10.1016/j.ymgme.2024.108333
Karen Becker, Andrea Paras, Anne Kozek, E. Vucko
{"title":"Identification of mild PAH deficiency through expanded carrier screening, undetected via newborn screening process","authors":"Karen Becker, Andrea Paras, Anne Kozek, E. Vucko","doi":"10.1016/j.ymgme.2024.108333","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108333","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140759569","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}
{"title":"Two versus one newborn screens: Policy considerations for state newborn screening laboratories based on the Texas experience","authors":"Hsiang-Chun Chang, Patricia Hunt, Yoel Gofin, Laura Makay, Rachel Lee, Susan Tanksley, Leslie McKenzie, Claudia Soler-Alfonso, Lindsay Burrage, Debra Freedenberg, Sanjiv Harpavat","doi":"10.1016/j.ymgme.2024.108335","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108335","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140785953","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}
Pub Date : 2024-04-01DOI: 10.1016/j.ymgme.2024.108273
Shoji Yano, Rachel McGowan, Mikako Warren
{"title":"Histopathological study of intracranial gaucheroma causing deafness in a patient with gaucher disease type 3: Effects of substrate reduction therapy","authors":"Shoji Yano, Rachel McGowan, Mikako Warren","doi":"10.1016/j.ymgme.2024.108273","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108273","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140771547","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}
Pub Date : 2024-04-01DOI: 10.1016/j.ymgme.2024.108296
Julie Fleischer, Sibyl Cox, Veronica Espina
{"title":"Multiple autosomal recessive conditions found within a Guatemalan Chuj population","authors":"Julie Fleischer, Sibyl Cox, Veronica Espina","doi":"10.1016/j.ymgme.2024.108296","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108296","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140774959","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}