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P049: Prenatal diagnosis of hypophosphatasia and long-term outcomes following early neonatal asfotase alfa treatment 产前诊断低磷血症和早期新生儿asfotase α - fa治疗后的长期预后
Genetics in Medicine Open Pub Date : 2026-01-01 Epub Date: 2026-03-05 DOI: 10.1016/j.gimo.2026.103540
Megan Raymond , Plamena Simeonova , Amy Patterson , Julie Hoover-Fong
{"title":"P049: Prenatal diagnosis of hypophosphatasia and long-term outcomes following early neonatal asfotase alfa treatment","authors":"Megan Raymond , Plamena Simeonova , Amy Patterson , Julie Hoover-Fong","doi":"10.1016/j.gimo.2026.103540","DOIUrl":"10.1016/j.gimo.2026.103540","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 103540"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147394114","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P046: Expanding clinical insight Into N-acetylglutamate synthase (NAGS) deficiency: A case report of diagnosis, treatment and long-term management P046：扩大对n -乙酰谷氨酸合酶（NAGS）缺乏症的临床认识：1例诊断、治疗和长期管理报告
Genetics in Medicine Open Pub Date : 2026-01-01 Epub Date: 2026-03-05 DOI: 10.1016/j.gimo.2026.103537
Eran Tallis , Lindsay Adamczak , Jessica Briggs , Jillian Soler
{"title":"P046: Expanding clinical insight Into N-acetylglutamate synthase (NAGS) deficiency: A case report of diagnosis, treatment and long-term management","authors":"Eran Tallis , Lindsay Adamczak , Jessica Briggs , Jillian Soler","doi":"10.1016/j.gimo.2026.103537","DOIUrl":"10.1016/j.gimo.2026.103537","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 103537"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147394260","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
O09: Sepiapterin responsiveness over 14 days in children and adults with phenylketonuria: Pooled results from three phase 3 clinical trials 2009：苯丙酮尿症儿童和成人患者14天以上的头孢菌素反应性：来自三个3期临床试验的汇总结果
Genetics in Medicine Open Pub Date : 2026-01-01 Epub Date: 2026-03-05 DOI: 10.1016/j.gimo.2026.104294
Melissa Lah , Nicola Longo , Maria Giżewska , Janet Thomas , Amaya Bélanger-Quintana , Ida Vanessa Schwartz , Heidi Peters , Kimberly Ingalls , Zhenming Zhao , Neil Smith , Ania Muntau
{"title":"O09: Sepiapterin responsiveness over 14 days in children and adults with phenylketonuria: Pooled results from three phase 3 clinical trials","authors":"Melissa Lah , Nicola Longo , Maria Giżewska , Janet Thomas , Amaya Bélanger-Quintana , Ida Vanessa Schwartz , Heidi Peters , Kimberly Ingalls , Zhenming Zhao , Neil Smith , Ania Muntau","doi":"10.1016/j.gimo.2026.104294","DOIUrl":"10.1016/j.gimo.2026.104294","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 104294"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147394579","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P014: Unique perinatal growth phases of a Prader-Willi syndrome preclinical model P014: Prader-Willi综合征临床前模型的独特围产期生长阶段
Genetics in Medicine Open Pub Date : 2026-01-01 Epub Date: 2026-03-05 DOI: 10.1016/j.gimo.2026.103505
Oluwashanu Balogun , Robert Nicholls , Karli Bortner , James Resnick
{"title":"P014: Unique perinatal growth phases of a Prader-Willi syndrome preclinical model","authors":"Oluwashanu Balogun , Robert Nicholls , Karli Bortner , James Resnick","doi":"10.1016/j.gimo.2026.103505","DOIUrl":"10.1016/j.gimo.2026.103505","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 103505"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147394917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P081: Genomic alterations of Ph-like ALL: Summarizing genomic findings from over 100 cases of pediatric Ph-like acute lymphoblastic leukemia P081: ph样ALL的基因组改变：总结100多例儿童ph样急性淋巴细胞白血病的基因组发现
Genetics in Medicine Open Pub Date : 2026-01-01 Epub Date: 2026-03-05 DOI: 10.1016/j.gimo.2026.103572
Samantha Efobi , Derek Wong , Yiming Zhong , Marilyn Li
{"title":"P081: Genomic alterations of Ph-like ALL: Summarizing genomic findings from over 100 cases of pediatric Ph-like acute lymphoblastic leukemia","authors":"Samantha Efobi , Derek Wong , Yiming Zhong , Marilyn Li","doi":"10.1016/j.gimo.2026.103572","DOIUrl":"10.1016/j.gimo.2026.103572","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 103572"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147395072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P061: Multilocus hereditary cancer: A case series of patients with pathogenic variants in three distinct genes* P061：多位点遗传性癌症：三种不同基因致病性变异的病例系列*
Genetics in Medicine Open Pub Date : 2026-01-01 Epub Date: 2026-03-05 DOI: 10.1016/j.gimo.2026.103552
Asma Ali , Madaline Purfeerst , Joan Steyermark , Kara Eckberg , Laura Ongie , Larissa Veres , Radhika Dhamija
{"title":"P061: Multilocus hereditary cancer: A case series of patients with pathogenic variants in three distinct genes*","authors":"Asma Ali , Madaline Purfeerst , Joan Steyermark , Kara Eckberg , Laura Ongie , Larissa Veres , Radhika Dhamija","doi":"10.1016/j.gimo.2026.103552","DOIUrl":"10.1016/j.gimo.2026.103552","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 103552"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147395217","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
O02: Survival, clinical, and biomarker data support the efficacy of intrathecal adrabetadex in Niemann-Pick disease type C 02：生存、临床和生物标志物数据支持鞘内adrabetadex治疗C型尼曼-皮克病的疗效
Genetics in Medicine Open Pub Date : 2026-01-01 Epub Date: 2026-03-05 DOI: 10.1016/j.gimo.2026.104287
Forbes Porter , Laurence Keller , Lixia Jiao , John Winnike , Christina Copland , Alexander Gold , Jason Camm
{"title":"O02: Survival, clinical, and biomarker data support the efficacy of intrathecal adrabetadex in Niemann-Pick disease type C","authors":"Forbes Porter , Laurence Keller , Lixia Jiao , John Winnike , Christina Copland , Alexander Gold , Jason Camm","doi":"10.1016/j.gimo.2026.104287","DOIUrl":"10.1016/j.gimo.2026.104287","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 104287"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147396312","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P072: Complementary germline and somatic testing in breast cancer care P072：辅助生殖细胞和体细胞检测在乳腺癌护理中的应用
Genetics in Medicine Open Pub Date : 2026-01-01 Epub Date: 2026-03-05 DOI: 10.1016/j.gimo.2026.103563
Sarah Nielsen Young , Emily Russell , Michelle Green , Erica Vaccari , Daniel Pineda-Alvarez , Stephanie Hastings , Kyle Strickland , Taylor Jensen , Shakti Ramkissoon , Rebecca Previs , Heidi Ko
{"title":"P072: Complementary germline and somatic testing in breast cancer care","authors":"Sarah Nielsen Young , Emily Russell , Michelle Green , Erica Vaccari , Daniel Pineda-Alvarez , Stephanie Hastings , Kyle Strickland , Taylor Jensen , Shakti Ramkissoon , Rebecca Previs , Heidi Ko","doi":"10.1016/j.gimo.2026.103563","DOIUrl":"10.1016/j.gimo.2026.103563","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 103563"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147396487","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
O16: Expanded germline cancer predisposition testing increases diagnostic yield across cancer types O16：扩大生殖系癌症易感性检测增加了癌症类型的诊断率
Genetics in Medicine Open Pub Date : 2026-01-01 Epub Date: 2026-03-05 DOI: 10.1016/j.gimo.2026.104302
Qiliang (Andy) Ding , Rhianna Urban , Megan Bishop , Megan Holdren , Darcy Huismann , Carrie Lahner , Matthew Manninen , Zhiyv Niu , Kevin Halling , Katherine Geiersbach , Sounak Gupta , Benjamin Kipp , Wei Shen
{"title":"O16: Expanded germline cancer predisposition testing increases diagnostic yield across cancer types","authors":"Qiliang (Andy) Ding , Rhianna Urban , Megan Bishop , Megan Holdren , Darcy Huismann , Carrie Lahner , Matthew Manninen , Zhiyv Niu , Kevin Halling , Katherine Geiersbach , Sounak Gupta , Benjamin Kipp , Wei Shen","doi":"10.1016/j.gimo.2026.104302","DOIUrl":"10.1016/j.gimo.2026.104302","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 104302"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147396480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P012: Newborn screening Phe/Tyr ratio is an early predictor of severity of PKU P012：新生儿筛查Phe/Tyr比值是PKU严重程度的早期预测指标
Genetics in Medicine Open Pub Date : 2026-01-01 Epub Date: 2026-03-05 DOI: 10.1016/j.gimo.2026.103503
Judith Hobert , Brianna Stebbins , Nicola Longo , Ashley Andrews
{"title":"P012: Newborn screening Phe/Tyr ratio is an early predictor of severity of PKU","authors":"Judith Hobert , Brianna Stebbins , Nicola Longo , Ashley Andrews","doi":"10.1016/j.gimo.2026.103503","DOIUrl":"10.1016/j.gimo.2026.103503","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"4 ","pages":"Article 103503"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147396560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","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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