日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Phase 1 Study of Oral N-Acetylmannosamine in Primary Podocytopathies

口服N-乙酰甘露糖胺治疗原发性足细胞病的I期研究

Huizing, Marjan; Ganguli, Anirban; Bolaños, Jonathan; Leoyklang, Petcharat; Wilkins, Kenneth J; Zeng, Yi; Figg, William D; Rossignol, Francis; Malicdan, May Christine V; Kopp, Jeffrey B; Gahl, William A

Multi-State Structural Genomics Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases

多状态结构基因组学能够对与钙化疾病相关的ABCC6基因变异进行大规模、机制性和情境特异性分类

Wagenknecht, Jessica B; Haque, Neshatul; Jorge, Salomao D; Ratnasinghe, Brian D; Urrutia, Raul; Gahl, William A; Ziegler, Shira G; Zimmermann, Michael T

Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder

游离唾液酸贮积症的临床和遗传特征

Wolfenson, Zoe; Grois, Gabriella; Hailemeskel, Ruth F; Sabaii, Marla; Huryn, Laryssa A; Zein, Wadih M; Lehky, Tanya; Thurm, Audrey; Joseph, Lisa; Baker, Eva H; Vezina, Gilbert; Hyland, Keith; Pollard, Laura; Macnamara, Ellen; Gropman, Andrea; Malicdan, May C; Gahl, William A; Adams, David R; Wolfe, Lynne

Long-term outcomes in nephropathic cystinosis: a review

肾病性胱氨酸病的长期预后:一项综述

Chang, Hayley E; Hossain, Mahin S; Song, Chris; Surampudi, Narayana; Nesterova, Galina; Gahl, William A

Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism

基于单倍型的眼皮肤白化病OCA2变异分析

Gillis, Meredith F; Ames, Madeleine R; Lundh, Linnea; Gotea, Valer; Elnitski, Laura; Donovan, Frank; Adeyemo, Adebowale; Rotimi, Charles; Brooks, Brian; Zein, Wadih; Gahl, William; Oetting, William S; Adams, David R; Loftus, Stacie K

Anandamide Is a Potential Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

花生四烯酸乙醇胺是赫曼斯基-普德拉克综合征肺纤维化的潜在血液生物标志物

Cinar, Resat; Basu, Abhishek; Arif, Muhammad; Park, Joshua K; Zawatsky, Charles N; Zuo, Ben Long G; Zuo, Mei Xing G; O'Brien, Kevin J; Behan, Molly; Introne, Wendy; Iyer, Malliga R; Gahl, William A; Malicdan, May Christine V; Gochuico, Bernadette R

A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype.

缺乏 Lyst 的小鼠模型重现了 Chediak-Higashi 综合征,并表现出更早发病的神经退行性表型

Greene Sunny, Talbert Mackenzie L, Frost F Graeme, Zerfas Patricia M, Springer Danielle, Noguchi Audrey, Morimoto Marie, Maynard Dawn, Garrett Lisa, Elliot Gene, Traver Maria, Yarnell David, Leoyklang Petcharat, Burke John D, Nicoli Elena-Raluca, Gahl William A, Introne Wendy J, Malicdan May Christine V

Differential tractography: an imaging marker for tissue degeneration in neurodegenerative diseases

差异性纤维束成像:神经退行性疾病中组织退化的影像学标志物

Lewis, Connor J; Vardar, Zeynep; Kühn, Anna Luisa; Johnston, Jean M; D'Souza, Precilla; Yousef, Muhammad H; Gahl, William A; Shazeeb, Mohammed Salman; Tifft, Cynthia J; Acosta, Maria T

Clinical, Laboratory, and Imaging Features Associated with Arginine Vasopressin Deficiency (Central Diabetes Insipidus) in Erdheim-Chester Disease (ECD)

Erdheim-Chester病(ECD)中精氨酸加压素缺乏症(中枢性尿崩症)相关的临床、实验室和影像学特征

Vaid, Sonal; Estrada-Veras, Juvianee; Gahl, William A; Patronas, Nicholas; Dave, Rahul H; Hannah-Shmouni, Fady; O'Brien, Kevin; Shekhar, Skand

Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism

溶酶体游离唾液酸贮积症患者的诱导多能干细胞衍生神经细胞表现出糖鞘脂代谢异常

Sabir, Marya S; Jovanovic, Vukasin M; Ryu, Seungmi; Sen, Chaitali; Ormanoglu, Pinar; Pollard, Laura; Steet, Richard; Gahl, William A; Huizing, Marjan; Tristan, Carlos A; Platt, Frances M; Malicdan, May Christine V