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

Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2

ENPP1 缺乏症的表型特征:婴儿期全身性动脉钙化和常染色体隐性遗传性低磷酸血症性佝偻病 2 型

Ferreira, Carlos R; Hackbarth, Mary E; Nitschke, Yvonne; Botschen, Ulrike; Gafni, Rachel I; Mughal, M Zulf; Baujat, Genevieve; Schnabel, Dirk; Schou, I Manjula; Khursigara, Gus; Reardon, Oona; Burklow, Thomas R; Swanner, Kathleen; Rutsch, Frank

ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database

ENPP1 缺乏症:基于位点特异性患者数据库的个体变异相关性临床最新进展

Mercurio, Stephanie A; Chunn, Lauren M; Khursigara, Gus; Nester, Catherine; Wray, Kathleen; Botschen, Ulrike; Kiel, Mark J; Rutsch, Frank; Ferreira, Carlos R

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies

异位钙化和低磷性佝偻病:ENPP1 和 ABCC6 缺乏症的自然史

Ferreira, Carlos R; Kintzinger, Kristina; Hackbarth, Mary E; Botschen, Ulrike; Nitschke, Yvonne; Mughal, M Zulf; Baujat, Genevieve; Schnabel, Dirk; Yuen, Eric; Gahl, William A; Gafni, Rachel I; Liu, Qing; Huertas, Pedro; Khursigara, Gus; Rutsch, Frank

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6

婴儿期全身性动脉钙化和假性黄色瘤可由ENPP1或ABCC6基因突变引起。

Nitschke, Yvonne; Baujat, Geneviève; Botschen, Ulrike; Wittkampf, Tanja; du Moulin, Marcel; Stella, Jacqueline; Le Merrer, Martine; Guest, Geneviève; Lambot, Karen; Tazarourte-Pinturier, Marie-Frederique; Chassaing, Nicolas; Roche, Olivier; Feenstra, Ilse; Loechner, Karen; Deshpande, Charu; Garber, Samuel J; Chikarmane, Rashmi; Steinmann, Beat; Shahinyan, Tatevik; Martorell, Loreto; Davies, Justin; Smith, Wendy E; Kahler, Stephen G; McCulloch, Mignon; Wraige, Elizabeth; Loidi, Lourdes; Höhne, Wolfgang; Martin, Ludovic; Hadj-Rabia, Smaïl; Terkeltaub, Robert; Rutsch, Frank