Orphanet J Rare Dis

期刊全称Orphanet J Rare Dis
注：上述信息均来源于网络，仅供查考，如有遗漏或信息错误，欢迎 向我反馈。

期刊相关文献 (13)

Identification of ETFDH gene c. 487 + 2 T > A pathogenic variant and mechanisms for polycystic kidney in neonatal onset MADD

ETFDH基因c.487+2T>A致病变异的鉴定及其导致新生儿多囊肾的机制 MADD

期刊:Orphanet J Rare Dis
影响因子:3.400
doi:10.1186/s13023-025-03640-4
Bijun Zhang ,Dongyang Zhang ,Feiyue Sun ,Xinxin Si ,Meng Luan ,Rong He
发表日期：2025
全文求助 收藏

Therapeutic delivery of recombinant glucocerebrosidase enzyme-containing extracellular vesicles to human cells from Gaucher disease patients

将含有重组葡糖脑苷脂酶的细胞外囊泡治疗性递送至戈谢病患者的人类细胞

期刊:Orphanet J Rare Dis
影响因子:3.400
doi:10.1186/s13023-024-03376-7
Keatdamrong Janpipatkul # ，Nareerat Sutjarit # ，Amornrat Tangprasittipap ，Tai Chaiamarit ，Pawarit Innachai ，Kanoknetr Suksen ，Tanida Chokpanuwat ，Thipwimol Tim-Aroon ，Usanarat Anurathapan ，Natee Jearawiriyapaisarn ，Alisa Tubsuwan ，Supareak Bowornpinyo ，Nithi Asavapanumas ，Arthit Chairoungdua ，Kanit Bhukhai ，Suradej Hongeng
发表日期：2024
全文求助 收藏

Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis

SLC26A2基因的双等位基因变异会扰乱软骨细胞稳态，从而导致多发性骨骺发育不良-4型。

期刊:Orphanet J Rare Dis
影响因子:3.400
doi:10.1186/s13023-024-03228-4
Shan Li # ,Yueyang Sheng # ,Xinyu Wang ,Qianqian Wang ,Ying Wang ,Yanzhuo Zhang ,Chengai Wu ,Xu Jiang
发表日期：2024
全文求助 收藏

Multi-omics analysis of a case of congenital microtia reveals aldob and oxidative stress associated with microtia etiology

对一例先天性小耳畸形病例进行多组学分析，揭示醛固酮系统和氧化应激与小耳畸形病因相关。

期刊:Orphanet J Rare Dis
影响因子:3.400
doi:10.1186/s13023-024-03149-2
Wenbo Liu ,Yi Wu ,Rulan Ma ,Xinxi Zhu ,Rui Wang ,Lin He ,Maoguo Shu
发表日期：2024
全文求助 收藏

Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study

南非人群中MADD的临床、生化和遗传谱：一项ICGNMD研究

期刊:Orphanet J Rare Dis
影响因子:3.400
doi:10.1186/s13023-023-03014-8
Michelle Bisschoff ,Izelle Smuts ,Marli Dercksen ,Maryke Schoonen ,Barend C Vorster ,George van der Watt ,Careni Spencer ,Kireshnee Naidu ,Franclo Henning ,Surita Meldau ,Robert McFarland ,Robert W Taylor ,Krutik Patel ,Mahmoud R Fassad ,Jana Vandrovcova ,Francois H van der Westhuizen
发表日期：2024
全文求助 收藏

Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency

两种新型COQ2变异体的复合杂合遗传导致家族性辅酶Q缺乏症。

期刊:Orphanet J Rare Dis
影响因子:3.400
doi:10.1186/s13023-020-01600-8.
Aliaa H Abdelhakim ,Avinash V Dharmadhikari ,Sara D Ragi ,Jose Ronaldo Lima de Carvalho Jr ,Christine L Xu ,Amanda L Thomas ,Christie M Buchovecky ,Mahesh M Mansukhani ,Ali B Naini ,Jun Liao ,Vaidehi Jobanputra ,Irene H Maumenee ,Stephen H Tsang
发表日期：2020
全文求助 收藏

Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients

对中国患者维德曼-施泰纳综合征的分子和表型谱进行描述

期刊:Orphanet J Rare Dis
影响因子:3.400
doi:10.1186/s13023-018-0909-0.
Niu Li ,Yirou Wang ,Yu Yang ,Pengpeng Wang ,Hui Huang ,Shiyi Xiong ,Luming Sun ,Min Cheng ,Cui Song ,Xinran Cheng ,Yu Ding ,Guoying Chang ,Yao Chen ,Yufei Xu ,Tingting Yu ,Ru-En Yao ,Yiping Shen ,Xiumin Wang ,Jian Wang
发表日期：2018
全文求助 收藏

Neural stem cells for disease modeling of Wolman disease and evaluation of therapeutics

利用神经干细胞构建沃尔曼病疾病模型并评估治疗方法

期刊:Orphanet J Rare Dis
影响因子:3.400
doi:10.1186/s13023-017-0670-9
Francis Aguisanda ，Charles D Yeh ，Catherine Z Chen ，Rong Li ，Jeanette Beers ，Jizhong Zou ，Natasha Thorne ，Wei Zheng
发表日期：2017
全文求助 收藏

Phenotypic and molecular insights into CASK-related disorders in males

男性CASK相关疾病的表型和分子机制研究

期刊:Orphanet J Rare Dis
影响因子:3.400
doi:10.1186/s13023-015-0256-3
Ute Moog ,Tatjana Bierhals ,Kristina Brand ,Jan Bautsch ,Saskia Biskup ,Thomas Brune ,Jonas Denecke ,Christine E de Die-Smulders ,Christina Evers ,Maja Hempel ,Marco Henneke ,Helger Yntema ,Björn Menten ,Joachim Pietz ,Rolph Pfundt ,Jörg Schmidtke ,Doris Steinemann ,Constance T Stumpel ,Lionel Van Maldergem ,Kerstin Kutsche
发表日期：2015
全文求助 收藏

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

日本创始人发现的涉及BHLHA9基因的重复/三重复与手/足裂畸形（伴或不伴长骨发育不全）和戈洛普-沃尔夫冈综合征相关。

期刊:Orphanet J Rare Dis
影响因子:3.400
doi:10.1186/s13023-014-0125-5.
Eiko Nagata ,Hiroki Kano ,Fumiko Kato ,Rie Yamaguchi ,Shinichi Nakashima ,Shinichiro Takayama ,Rika Kosaki ,Hidefumi Tonoki ,Seiji Mizuno ,Satoshi Watanabe ,Koh-Ichiro Yoshiura ,Tomoki Kosho ,Tomonobu Hasegawa ,Mamori Kimizuka ,Atsushi Suzuki ,Kenji Shimizu ,Hirofumi Ohashi ,Nobuhiko Haga ,Hironao Numabe ,Emiko Horii ,Toshiro Nagai ,Hiroshi Yoshihashi ,Gen Nishimura ,Tatsushi Toda ,Shuji Takada ,Shigetoshi Yokoyama ,Hiroshi Asahara ,Shinichiro Sano ,Maki Fukami ,Shiro Ikegawa ,Tsutomu Ogata
发表日期：2014
全文求助 收藏
  • 1
  • 2