Genetics in Medicine Open最新文献_第4页

P071: Two de novo intronic mutations of GLS gene leading to glutaminase deficiency/autosomal recessive developmental and epileptic encephalopathy 71 (AR-DEE71) P071: GLS基因的两个新生内含子突变导致谷氨酰胺酶缺乏症/常染色体隐性发育性和癫痫性脑病71 （AR-DEE71）

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102915

M.J. Hajianpour , Kate Tauber , Joaquim Pinheiro , Bailey Whitbeck , Prima Das , John Pugh

引用次数: 0

Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing 通过整合RNA测序，完善对遗传性癌症筛查中不确定意义的变异的解释。

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2024.101914

Youbao Sha , J. Bryce Ortiz , Sara L. Bristow , Kate Loranger , Linyan Meng , Xiaonan Zhao , Fan Xia , Sheetal Parmar , Adam C. ElNaggar , Wenbo Xu

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引用次数: 0

P048: Three year safety experience in children treated with govorestat for classic galactosemia P048：用govorestat治疗经典半乳糖血症儿童3年的安全性经验

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102892

Evan Bailey , Riccardo Perfetti , Shoshana Shendelman

引用次数: 0

P050: Integrating metabolic, genetic, and demographic data for enhanced newborn screening P050：整合代谢、遗传和人口统计数据，加强新生儿筛查

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102894

Curt Scharfe , Yuhan Xie , Gang Peng , Laura Forero , Gregory Enns , Hongyu Zhao , Tina Cowan

引用次数: 0

P002: Improvements in blood phenylalanine and health-related quality of life outcomes among adults with PKU receiving pegvaliase in the OPAL study* OPAL研究中，接受pegvaliase治疗的成人PKU患者血液苯丙氨酸和健康相关生活质量的改善*

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102846

Markey McNutt II , Ogün Sazova , Milad Karimi , Naomi Schwartz , Frank Rutsch , Ania Muntau

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O01: Efficacy and safety outcomes of JNT-517, a first-in-class SLC6A19 inhibitor, in adults with phenylketonuria: A randomized study 01：一项随机研究：JNT-517（一种SLC6A19抑制剂）治疗成人苯丙酮尿症的疗效和安全性

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.101964

Cary Harding , Nicola Longo , Andreu Viader , Toby Vaughn , Fernanda Leal-Pardinas , Elaina Jurecki , Markey McNutt II , Ania Muntau , Rani Singh , Joel Barrish , George Vratsanos , Haoling Weng , John Throup

引用次数: 0

P035: Withdrawn P035:撤销

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102879

引用次数: 0

P082: Expanding clinical spectrums in carbamoyl phosphate synthetase I deficiency: A case series of four patients - a tertiary institution’s experience P082：扩大磷酸氨基甲酰合成酶I缺乏症的临床范围：一个由四名患者组成的病例系列-一个高等教育机构的经验

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102926

Vittoria Rossi , Brittany Hoyle , Kim Ng , Ivy Elvin , Nicole Engelhardt

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P027: Genetic landscape of ALPL and other genes impacting alkaline phosphatase variation in the UK Biobank P027: UK Biobank中影响碱性磷酸酶变异的ALPL和其他基因的遗传景观

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102871

Guillermo del Angel , William Mowrey , Anna Petryk , Ben Hollis , Sebastian Wasilewski , Fengyuan Hu , Wei Ding , Slavé Petrovski

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P028: Population-specific structural variation linked to metabolic diseases in people of Pacific ancestry P028：太平洋血统人群中与代谢性疾病相关的群体特异性结构变异

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102872

Connor Littlefield , Jose Lazaro-Guevara , Devorah Stucki , Michael Lansford , Melissa Pezzolesi , Emma Taylor , Jacob Taloa , Kime Lao , Justina Tavana , William Holland , Kalani Raphael , Marcus Pezzolesi

引用次数: 0