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

Editorial: New insights: developments in laboratory testing for the diagnosis and monitoring of endocrine related disorders and metabolic disease

社论:新见解:内分泌相关疾病和代谢疾病诊断与监测的实验室检测进展

Gounden, Verena; Tanpaiboon, Pranoot

Plasma arginine levels in arginase deficiency in the "real world"

真实世界中精氨酸酶缺乏症患者的血浆精氨酸水平

Tanpaiboon, Pranoot; Huang, Yue; Louie, Judy Z; Sharma, Rajesh; Cederbaum, Stephen; Salazar, Denise

Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study

基因组检测临床应用的新变异发现及挑战:新生儿和婴儿基因组医学(GEMINI)研究中期报告

Maron, Jill L; Kingsmore, Stephen F; Wigby, Kristen; Chowdhury, Shimul; Dimmock, David; Poindexter, Brenda; Suhrie, Kristen; Vockley, Jerry; Diacovo, Thomas; Gelb, Bruce D; Stroustrup, Annemarie; Powell, Cynthia M; Trembath, Andrea; Gallen, Matthew; Mullen, Thomas E; Tanpaiboon, Pranoot; Reed, Dallas; Kurfiss, Anne; Davis, Jonathan M

Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction

通过新生儿筛查发现的CRIM阴性婴儿型庞贝病,其临床结局得以改善:早期酶替代疗法和免疫耐受诱导的益处

Li, Cindy; Desai, Ankit K; Gupta, Punita; Dempsey, Katherine; Bhambhani, Vikas; Hopkin, Robert J; Ficicioglu, Can; Tanpaiboon, Pranoot; Craigen, William J; Rosenberg, Amy S; Kishnani, Priya S

Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study

三庚酸甘油酯 (UX007) 对长链脂肪酸氧化障碍患者的影响:一项开放标签、长期扩展研究的结果

Vockley, Jerry; Burton, Barbara; Berry, Gerard; Longo, Nicola; Phillips, John; Sanchez-Valle, Amarilis; Chapman, Kimberly; Tanpaiboon, Pranoot; Grunewald, Stephanie; Murphy, Elaine; Lu, Xiaoxiao; Cataldo, Jason

Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients

婴儿型桑德霍夫病:泰国患者的临床表现和一种新的常见突变

Thipwimol Tim-Aroon, Khunton Wichajarn, Kamornwan Katanyuwong, Pranoot Tanpaiboon, Nithiwat Vatanavicharn, Kullasate Sakpichaisakul, Arthaporn Kongkrapan, Jakris Eu-Ahsunthornwattana, Supranee Thongpradit, Kanya Moolsuwan, Nusara Satproedprai, Surakameth Mahasirimongkol, Tassanee Lerksuthirat, Bhoom

Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

精氨酸与鸟氨酸比值作为新生儿高精氨酸血症筛查阳性患者的诊断标志物

Huang, Yue; Sharma, Rajesh; Feigenbaum, Annette; Lee, Chung; Sahai, Inderneel; Sanchez Russo, Rossana; Neira, Juanita; Brooks, Susan Sklower; Jackson, Kelly E; Wong, Derek; Cederbaum, Stephen; Lacbawan, Felicitas L; Rowland, Charles M; Tanpaiboon, Pranoot; Salazar, Denise

Missense variant contribution to USP9X-female syndrome

错义变异对 USP9X 女性综合征的影响

Jolly, Lachlan A; Parnell, Euan; Gardner, Alison E; Corbett, Mark A; Pérez-Jurado, Luis A; Shaw, Marie; Lesca, Gaetan; Keegan, Catherine; Schneider, Michael C; Griffin, Emily; Maier, Felicitas; Kiss, Courtney; Guerin, Andrea; Crosby, Kathleen; Rosenbaum, Kenneth; Tanpaiboon, Pranoot; Whalen, Sandra; Keren, Boris; McCarrier, Julie; Basel, Donald; Sadedin, Simon; White, Susan M; Delatycki, Martin B; Kleefstra, Tjitske; Küry, Sébastien; Brusco, Alfredo; Sukarova-Angelovska, Elena; Trajkova, Slavica; Yoon, Sehoun; Wood, Stephen A; Piper, Michael; Penzes, Peter; Gecz, Jozef

GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment

婴儿脊髓性肌萎缩症中的GARS相关疾病:对诊断和治疗的启示

Markovitz, Rebecca; Ghosh, Rajarshi; Kuo, Molly E; Hong, William; Lim, Jaehyung; Bernes, Saunder; Manberg, Stephanie; Crosby, Kathleen; Tanpaiboon, Pranoot; Bharucha-Goebel, Diana; Bonnemann, Carsten; Mohila, Carrie A; Mizerik, Elizabeth; Woodbury, Suzanne; Bi, Weimin; Lotze, Timothy; Antonellis, Anthony; Xiao, Rui; Potocki, Lorraine

An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease

在接受治疗性蛋白治疗的未接受过酶替代疗法(ERT)的患者中,采用短暂低剂量甲氨蝶呤进行免疫耐受治疗:婴儿型庞贝病的经验

Kazi, Zoheb B; Desai, Ankit K; Troxler, R Bradley; Kronn, David; Packman, Seymour; Sabbadini, Marta; Rizzo, William B; Scherer, Katalin; Abdul-Rahman, Omar; Tanpaiboon, Pranoot; Nampoothiri, Sheela; Gupta, Neerja; Feigenbaum, Annette; Niyazov, Dmitriy M; Sherry, Langston; Segel, Reeval; McVie-Wylie, Alison; Sung, Crystal; Joseph, Alexandra M; Richards, Susan; Kishnani, Priya S