Mevalonate Kinase Deficiency: About 2 Cases

被引：0
作者：
Ailal, F. [1 ]
Benhsaien, I. [1 ]
Jeddane, L. [1 ]
Najib, J. [1 ]
Bousfiha, A. A. [1 ]
机构：
[1] Fac Med & Pharm, Clin Immunol Unit, Casablanca, Morocco
来源：
JOURNAL OF CLINICAL IMMUNOLOGY | 2014年 / 34卷
关键词：
D O I：
暂无
中图分类号：
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号：
100102 ;
摘要：
ESID-0490
引用
收藏
页码：S193 / S193
页数：1
相关论文
共 50 条
  • [21] Molecular and cellular consequences of mevalonate kinase deficiency
    Politiek, Frouwkje A.
    Turkenburg, Marjolein
    Henneman, Linda
    Ofman, Rob
    Waterham, Hans R.
    [J]. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2024, 1870 (05):
  • [22] Weekly oral alendronate in mevalonate kinase deficiency
    Cantarini, Luca
    Vitale, Antonio
    Magnotti, Flora
    Lucherini, Orso Maria
    Caso, Francesco
    Frediani, Bruno
    Galeazzi, Mauro
    Rigante, Donato
    [J]. ORPHANET JOURNAL OF RARE DISEASES, 2013, 8
  • [23] Mevalonate kinase deficiency - Evidence for a phenotypic continuum
    Simon, A
    Kremer, HPH
    Wevers, RA
    Scheffer, H
    de Jong, JG
    van der Meer, JWM
    Drenth, JPH
    [J]. NEUROLOGY, 2004, 62 (06) : 994 - 997
  • [24] Putative modifier genes in mevalonate kinase deficiency
    Marcuzzi, Annalisa
    Vozzi, Diego
    Girardelli, Martina
    Tricarico, Paola Maura
    Knowles, Alessandra
    Crovella, Sergio
    Vuch, Josef
    Tommasini, Alberto
    Piscianz, Elisa
    Bianco, Anna Monica
    [J]. MOLECULAR MEDICINE REPORTS, 2016, 13 (04) : 3181 - 3189
  • [25] Mevalonate Kinase Deficiency: A Survey of 50 Patients
    Bader-Meunier, Brigitte
    Florkin, Benoit
    Sibilia, Jean
    Acquaviva, Cecile
    Hachulla, Eric
    Grateau, Gilles
    Richer, Olivier
    Farber, Claire Michele
    Fischbach, Michel
    Hentgen, Veronique
    Jego, Patrick
    Laroche, Cecile
    Neven, Benedicte
    Lequerre, Thierry
    Mathian, Alexis
    Pellier, Isabelle
    Touitou, Isabelle
    Rabier, Daniel
    Prieur, Anne-Marie
    Cuisset, Laurence
    Quartier, Pierre
    [J]. PEDIATRICS, 2011, 128 (01) : E152 - E159
  • [26] Mevalonate kinase deficiency, a metabolic autoinflammatory disease
    van der Burgh, Robert
    ter Haar, Nienke M.
    Boes, Marianne L.
    Frenkel, Joost
    [J]. CLINICAL IMMUNOLOGY, 2013, 147 (03) : 197 - 206
  • [27] CHARACTERIZATION OF IMMUNE DEFECTS IN MEVALONATE KINASE DEFICIENCY
    Piscianz, E.
    Marcuzzi, A.
    Valencic, E.
    Tommasini, A.
    [J]. JOURNAL OF CLINICAL IMMUNOLOGY, 2012, 32 : 64 - 65
  • [28] Uveitis, glaucoma, and cataract with mevalonate kinase deficiency
    Agarwal, Nidhi
    Kothari, Mihir
    [J]. JOURNAL OF AAPOS, 2022, 26 (02): : 93 - 95
  • [29] Mevalonate Kinase Deficiency: Diagnostic and Management Challenges
    Puneet Kumar Choudhary
    Vivek Parihar
    Jagatshreya Satapathy
    Narendra Kumar Bagri
    [J]. Indian Journal of Pediatrics, 2021, 88 : 937 - 938
  • [30] Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency
    Hinson, DD
    Chambliss, KL
    Hoffmann, GF
    Krisans, S
    Keller, RK
    Gibson, KM
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 1997, 272 (42) : 26756 - 26760
12345