Mutations in ENPP1 or ABCC6 cause generalized arterial calcification of infancy and pseudoxanthoma elasticum

被引:0
|
作者
Nitschke, Y. [1 ]
Baujat, G. [2 ]
Martin, L. [3 ]
Du Moulin, M. [1 ]
Terkeltaub, R. [4 ]
Hoehne, W. [5 ]
Rutsch, F. [1 ]
机构
[1] Univ Munster, Childrens Hosp, D-4400 Munster, Germany
[2] Hop Necker Enfants Malad, Paris, France
[3] Angers Univ Hosp, Angers, France
[4] UCSD, La Jolla, CA USA
[5] Charite, D-13353 Berlin, Germany
关键词
D O I
暂无
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:269 / 269
页数:1
相关论文
共 50 条
  • [41] Investigation of ABCC6 in Japanese patients with Pseudoxanthoma elasticum
    Iwanaga, Akira
    Yozaki, Mariko
    Ogi, Tomoo
    Tanioka, Miki
    Tamura, Hiroshi
    Kitaoka, Takashi
    Maemura, Koji
    Yamamoto, Yosuke
    Utani, Atsushi
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2011, 131 : S68 - S68
  • [42] Sodium Thiosulfate in ABCC6 Mutated Generalized Arterial Calcification of Infancy: A Case Report
    Schenk, Allyson
    Torres, Marcela
    Tilley, Jo
    Brautbar, Ariel
    Herring, Rachelle
    Steelman, Joel
    HORMONE RESEARCH IN PAEDIATRICS, 2021, 94 (SUPPL 2): : 20 - 21
  • [43] Plasma Level of Pyrophosphate Is Low in Pseudoxanthoma Elasticum Owing to Mutations in the ABCC6 Gene, but It Does Not Correlate with ABCC6 Genotype
    Kozak, Eszter
    Bartstra, Jonas W.
    de Jong, Pim A.
    Mali, Willem P. T. M.
    Fulop, Krisztina
    Tokesi, Natalia
    Pomozi, Viola
    Risseeuw, Sara
    Ossewaarde-van Norel, Jeannette
    van Leeuwen, Redmer
    Varadi, Andras
    Spiering, Wilko
    JOURNAL OF CLINICAL MEDICINE, 2023, 12 (03)
  • [44] ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum
    Xiaofeng Hu
    Astrid Plomp
    Jan Wijnholds
    Jacoline ten Brink
    Simone van Soest
    L Ingeborgh van den Born
    Anita Leys
    Ron Peek
    Paulus T V M de Jong
    Arthur A B Bergen
    European Journal of Human Genetics, 2003, 11 : 215 - 224
  • [45] Mutations in the GGCX and ABCC6 Genes in a Family with Pseudoxanthoma Elasticum-Like Phenotypes
    Li, Qiaoli
    Grange, Dorothy K.
    Armstrong, Nicole L.
    Whelan, Alison J.
    Hurley, Maria Y.
    Rishavy, Mark A.
    Hallgren, Kevin W.
    Berkner, Kathleen L.
    Schurgers, Leon J.
    Jiang, Qiujie
    Uitto, Jouni
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2009, 129 (03) : 553 - 563
  • [46] ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum
    Bertamino, Marta
    Severino, Mariasavina
    Grossi, Alice
    Rusmini, Marta
    Tortora, Domenico
    Gandolfo, Carlo
    Pederzoli, Silvia
    Malattia, Clara
    Picco, Paolo
    Striano, Pasquale
    Ceccherini, Isabella
    Di Rocco, Maja
    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2018, 22 (04) : 725 - 728
  • [47] Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum
    Iwanaga, Akira
    Okubo, Yumi
    Yozaki, Mariko
    Koike, Yuta
    Kuwatsuka, Yutaka
    Tomimura, Saori
    Yamamoto, Yosuke
    Tamura, Hiroshi
    Ikeda, Satoshi
    Maemura, Koji
    Tsuiki, Eiko
    Kitaoka, Takashi
    Endo, Yuichiro
    Mishima, Hiroyuki
    Yoshiura, Koh-Ichiro
    Ogi, Tomoo
    Tanizaki, Hideaki
    Wataya-Kaneda, Mari
    Hattori, Tomoyasu
    Utani, Atsushi
    JOURNAL OF DERMATOLOGY, 2017, 44 (06): : 644 - 650
  • [48] Pseudoxanthoma elasticum: Identification of mutations in the ABCC6 gene, encoding multidrug resistance protein 6
    Hamer, C
    Pope, MF
    Shaw-Smith, C
    Xavier, J
    Macdonald, F
    Germain, DP
    JOURNAL OF MEDICAL GENETICS, 2001, 38 : S57 - S57
  • [50] ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum
    Hu, XF
    Plomp, A
    Wijnholds, J
    ten Brink, J
    van Soest, S
    van den Born, LI
    Leys, A
    Peek, R
    de Jong, PTVM
    Bergen, AAB
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2003, 11 (03) : 215 - 224