Tyrosine supplementation with high-protein diet as a therapeutic strategy for YARS1 deficiency [0.03%]
高蛋白饮食联合酪氨酸补充治疗YARS1缺陷症的策略研究
Luisa Averdunk,Karin Konzett,Hanna Mandel et al.
Luisa Averdunk et al.
Purpose: Biallelic pathogenic variants in YARS1 cause tyrosyl-tRNA synthase (TyrRS) deficiency that compromises the loading of tyrosine to its tRNA. YARS1 deficiency is characterized by impairment of neurological developm...
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) [0.03%]
苯丙氨酸羟化酶缺乏症的诊断和管理：美国医学遗传学院（ACMG）于2023年的循证临床指南
Wendy E Smith,Susan A Berry,Kaitlyn Bloom et al.
Wendy E Smith et al.
Correspondence on "Genome sequencing reveals the impact of pseudoexons in rare genetic disease" by Pitsava et al [0.03%]
关于Pitsava等人的“基因组测序揭示罕见遗传疾病中伪外显子的影响”的来信
Daffodil M Canson,George A R Wiggins,Logan C Walker et al.
Daffodil M Canson et al.
Response to Sansom et al [0.03%]
回应桑森等人的观点
Katharine Press Callahan,Rebecca Mueller,Steven Joffe et al.
Katharine Press Callahan et al.
Correspondence on "Patterns of X-linked inheritance: A new approach for the genome era" by Basava et al [0.03%]
Basava等关于“基因组时代X染色体连锁遗传模式的新方法”的来信回复
Taylor Kane,Tanner F Coleman
Taylor Kane
Seth I Berger,Georgia Pitsava,Changrui Xiao et al.
Seth I Berger et al.
Correspondence on "What's in a name? Issues to consider when naming Mendelian disorders" by Rasmussen et al [0.03%]
关于Rasmussen等撰写的“命名孟德尔遗传病时需要考虑的问题”的来信
Joël Zlotogora
Joël Zlotogora
Sanjana Basava,William B Dobyns
Sanjana Basava
Response to Zlotogora [0.03%]
答佐洛托戈拉博士
Sonja A Rasmussen,Ada Hamosh
Sonja A Rasmussen
Correspondence on "Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)" by Smith et al [0.03%]
关于Smith等人发表的“苯丙氨酸羟化酶缺乏症的诊断和管理：美国医学遗传学和基因组学学院（ACMG）2023年循证临床指南”的通信答复
Peter Burgard,Diana Ballhausen,Julia B Hennermann et al.
Peter Burgard et al.