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

Case Report: Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening

病例报告:TREC筛查发现Cornelia de Lange综合征患者出现短暂性重度T细胞淋巴细胞减少症

Retif, Hope; Rolhfs Rivera, Devyn; Upadia, Jariya; Wysocki, Christian; Abreo, Andrew; Wall, Luke A

Clinical experience with Pegvaliase in phenylketonuria: A retrospective chart review of outcomes, safety, and dosing patterns

苯丙酮尿症患者使用培伐利司的临床经验:回顾性图表分析结果、安全性和给药模式

Upadia, Jariya; Noh, Grace; Crivelly, Kea; Cunningham, Amy; Aziz, Elise; Andersson, Hans C

A clinical and genotype-phenotype analysis of MACF1 variants

MACF1变异体的临床和基因型-表型分析

Dekker, Jordy; Schot, Rachel; Aldinger, Kimberly A; Everman, David B; Washington, Camerun; Jones, Julie R; Sullivan, Jennifer A; Spillmann, Rebecca C; Shashi, Vandana; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Mosca-Boidron, Anne-Laure; Perrin, Laurence; Auvin, Stéphane; Zaki, Maha S; Gleeson, Joseph G; Meave, Naomi; Wallace, Cassidy; Nambot, Sophie; Delanne, Julian; Ruggiero, Sarah M; Helbig, Ingo; Fitzgerald, Mark P; Leventer, Richard J; Grange, Dorothy K; Argilli, Emanuela; Sherr, Elliott H; Prakash, Supraja; Neilson, Derek E; Nicita, Francesco; Sferra, Antonella; Bertini, Enrico S; Aiello, Chiara; Brockmann, Knut; Kuranov, Alexander B; Kaulfuss, Silke; Basit, Sulman; Alluqmani, Majed; Almatrafi, Ahmad; Friedman, Jan M; Guimond, Colleen; Mohammed, Faruq; Sharma, Pooja; Goel, Divya; Wirth, Thomas; Anheim, Mathieu; Bahena, Paulina; Koparir, Asuman; Kolokotronis, Konstantinos; Vona, Barbara; Haaf, Thomas; Kunstmann, Erdmute; Maroofian, Reza; Sczakiel, Henrike L; Boschann, Felix; Misra-Isrie, Mala; Louie, Raymond J; Stolerman, Elliot S; Sanchez-Lara, Pedro A; Mergler, Sandra; Oegema, Renske; Zarate, Yuri A; Kariminejad, Ariana; Tajsharghi, Homa; Zeidler, Shimriet; Kievit, Anneke J A; Bouman, Arjan; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Stuurman, Kyra E; Swols, Dayna Morel; Tekin, Mustafa; Upadia, Jariya; Martin, Donna M; Craven, Daniel; Hiatt, Susan M; van de Pol, Laura A; D'Arco, Felice; Margot, Henri; Wilke, Martina; Yousefi, Soheil; Barakat, Tahsin Stefan; van Veghel-Plandsoen, Monique M; Aronica, Eleonora; Anink, Jasper; Rogers, Stephen L; Slep, Kevin C; Doherty, Dan; Dobyns, William B; Mancini, Grazia M S

Expanding the phenotype associated with biallelic SCNM1 variants

扩展与双等位基因SCNM1变异相关的表型

Iturrate, Asier; Tran-Mau Them, Frédéric; Verloes, Alain; Pouzet, Antoine; de Silva, Deepthi; Perrin-Sabourin, Laurence; Wentzensen, Ingrid M; Jones, Kennedi; Upadia, Jariya; Abdalla, Ebtesam; Thauvin-Robinet, Christel; Ruiz-Perez, Victor L; Bruel, Ange-Line

Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes

路易斯安那州某中心扩大新生儿先天性代谢缺陷筛查(2005-2024):结果

Upadia, Jariya; Noh, Grace; Crivelly, Kea; Aziz, Elise; Cunningham, Amy; Andersson, Hans C

Thiamine-responsive maple syrup urine disease missed by newborn screen: A case report

新生儿筛查漏诊的硫胺素反应性枫糖尿症:病例报告

Upadia, Jariya; Noh, Grace; Crivelly, Kea; Smith, Jennifer; Andersson, Hans C

Case report: Lysine improvement in siblings with glutaric acidemia type 1 following reduced medical food intake: Implications for amino acid absorption and reabsorption

病例报告:减少特殊医学用途配方食品摄入后,戊二酸血症1型患儿赖氨酸水平改善:对氨基酸吸收和重吸收的影响

Noh, Grace; Upadia, Jariya

Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect

19 例苯丙氨酸羟化酶缺乏症患者服用四氢生物蝶呤 (BH4) 后饮食反应达到最大值:超强反应者可预期什么

Upadia, Jariya; Crivelly, Kea; Noh, Grace; Cunningham, Amy; Cerminaro, Caroline; Li, Yuwen; Mckoin, Meredith; Chenevert, Madeline; Andersson, Hans C

Subtelomeric microdeletion in chromosome 20p13 associated with short stature

20号染色体短臂13区亚端粒微缺失与矮小症相关

Liu, J; Li, Y; Andersson, H C; Upadia, J

Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience

单中心经验:新生儿筛查极长链酰基辅酶A脱氢酶缺乏症异常婴儿的生化和分子特征

Upadia, Jariya; Noh, Grace; Lefante, John J; Andersson, Hans C