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

Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotype

两名患有未经治疗的苯丙酮尿症的成年姐妹:临床表型显著不同

Demirbas, Didem; Waisbren, Susan E; Bodamer, Olaf; Hung, Christina Y; Rajabi, Farrah; Berry, Gerard; Levy, Harvey L

The use of synaptic extracellular myo-inositol to treat Developmental and Epileptic Encephalopathy

利用突触外肌醇治疗发育性和癫痫性脑病

Naomi Vos, E; Demirbas, Didem; Rodan, Lance; Yang, Edward; Prabhu, Sanjay P; Chen, Jie; Huang, Xiaoping; Haynes, Robin L; Lehtinen, Maria K; Bennett, Michael J; He, Miao; Pearl, Phillip L; Rubio-Gozalbo, M Estela; Poduri, Annapurna; Berry, Gerard T

Multi-omic analysis of the ciliogenic transcription factor RFX3 reveals a role in promoting activity-dependent responses via enhancing CREB binding in human neurons.

对纤毛生成转录因子 RFX3 的多组学分析揭示了其通过增强人类神经元中 CREB 结合来促进活动依赖性反应的作用

Lai Jenny, Demirbas Didem, Phillips Kaitlyn, Zhao Boxun, Wallace Harrison, Seferian Megan, Nakayama Tojo, Harris Holly, Chatzipli Aikaterini, Lee Eunjung Alice, Yu Timothy W

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

经典型半乳糖血症患者的脑功能:半乳糖血症网络(GalNet)成员综述

Panis, Bianca; Vos, E Naomi; Barić, Ivo; Bosch, Annet M; Brouwers, Martijn C G J; Burlina, Alberto; Cassiman, David; Coman, David J; Couce, María L; Das, Anibh M; Demirbas, Didem; Empain, Aurélie; Gautschi, Matthias; Grafakou, Olga; Grunewald, Stephanie; Kingma, Sandra D K; Knerr, Ina; Leão-Teles, Elisa; Möslinger, Dorothea; Murphy, Elaine; Õunap, Katrin; Pané, Adriana; Paci, Sabrina; Parini, Rossella; Rivera, Isabel A; Scholl-Bürgi, Sabine; Schwartz, Ida V D; Sdogou, Triantafyllia; Shakerdi, Loai A; Skouma, Anastasia; Stepien, Karolina M; Treacy, Eileen P; Waisbren, Susan; Berry, Gerard T; Rubio-Gozalbo, M Estela

The hypergonadotropic hypogonadism conundrum of classic galactosemia

经典型半乳糖血症的高促性腺激素性性腺功能减退症之谜

Derks, Britt; Rivera-Cruz, Greysha; Hagen-Lillevik, Synneva; Vos, E Naomi; Demirbas, Didem; Lai, Kent; Treacy, Eileen P; Levy, Harvey L; Wilkins-Haug, Louise E; Rubio-Gozalbo, M Estela; Berry, Gerard T

A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT

一项针对携带GALT基因S135L (c.404C > T)变异的1型半乳糖血症患者的急性和长期预后进行的多国研究

Katler, Quinton S; Stepien, Karolina M; Paull, Nathan; Patel, Sneh; Adams, Michael; Balci, Mehmet Cihan; Berry, Gerard T; Bosch, Annet M; DeLaO, Angela; Demirbas, Didem; Edman, Julianna; Ficicioglu, Can; Goff, Melanie; Hacker, Stephanie; Knerr, Ina; Lancaster, Kristen; Li, Hong; Mendelsohn, Bryce A; Nichols, Brandi; de Rezende Pinto, Wladimir Bocca Vieira; Rocha, Júlio César; Rubio-Gozalbo, M Estela; Saad-Naguib, Michael; Scholl-Buergi, Sabine; Searcy, Sarah; de Souza, Paulo Victor Sgobbi; Wittenauer, Angela; Fridovich-Keil, Judith L

Galactose epimerase deficiency: lessons from the GalNet registry

半乳糖差向异构酶缺乏症:来自 GalNet 注册研究的启示

Derks, Britt; Demirbas, Didem; Arantes, Rodrigo R; Banford, Samantha; Burlina, Alberto B; Cabrera, Analía; Chiesa, Ana; Couce, M Luz; Dionisi-Vici, Carlo; Gautschi, Matthias; Grünewald, Stephanie; Morava, Eva; Möslinger, Dorothea; Scholl-Bürgi, Sabine; Skouma, Anastasia; Stepien, Karolina M; Timson, David J; Berry, Gerard T; Rubio-Gozalbo, M Estela

Galactokinase deficiency: lessons from the GalNet registry

半乳糖激酶缺乏症:来自 GalNet 注册研究的启示

Rubio-Gozalbo, M Estela; Derks, Britt; Das, Anibh Martin; Meyer, Uta; Möslinger, Dorothea; Couce, M Luz; Empain, Aurélie; Ficicioglu, Can; Juliá Palacios, Natalia; De Los Santos De Pelegrin, Mariela M; Rivera, Isabel A; Scholl-Bürgi, Sabine; Bosch, Annet M; Cassiman, David; Demirbas, Didem; Gautschi, Matthias; Knerr, Ina; Labrune, Philippe; Skouma, Anastasia; Verloo, Patrick; Wortmann, Saskia B; Treacy, Eileen P; Timson, David J; Berry, Gerard T

[(13)C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis

半乳糖激酶缺乏症和痉挛性双瘫患者的[(13)C]-半乳糖呼气试验

Ficicioglu, Can; Demirbas, Didem; Derks, Britt; Pai, G Shashidhar; Timson, David J; Rubio-Gozalbo, Maria Estela; Berry, Gerard T

The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation

肝移植后丙酸血症合并心肌病复发

Berry, Gerard T; Blume, Elizabeth D; Wessel, Ann; Singh, Tajinder; Hecht, Leah; Marsden, Deborah; Sahai, Inderneel; Elisofon, Scott; Ferguson, Michael; Kim, Heung Bae; Harris, David J; Demirbas, Didem; Almuqbil, Mohammed; Nyhan, William L