SCHIMKE IMMUNOOSSEOUS DYSPLASIA DIAGNOSIS AND MANAGEMENT OF HEADACHES AND RENAL INSUFFICIENCY

被引:0
|
作者
Beleford, D. T. [1 ]
Shieh, J. [1 ]
机构
[1] Univ Calif San Francisco, San Francisco, CA 94143 USA
关键词
D O I
10.1136/jim-2016-000365.413
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
413
引用
收藏
页码:273 / 273
页数:1
相关论文
共 50 条
  • [1] Schimke immunoosseous dysplasia and management considerations for vascular risks
    Beleford, Daniah T.
    Diab, Mohammad
    Qubty, William F.
    Malloy, Mary J.
    Long, Roger K.
    Shieh, Joseph T.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (07) : 1246 - 1252
  • [2] JUVENILE VARIANT OF SCHIMKE IMMUNOOSSEOUS DYSPLASIA
    HASHIMOTO, K
    TAKEUCHI, A
    IESHIMA, A
    TAKADA, M
    KASAGI, M
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 49 (03): : 266 - 269
  • [3] Autoimmune enteropathy in Schimke immunoosseous dysplasia
    Kaitila, I
    Savilahti, E
    Örmälä, T
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1998, 77 (05): : 427 - 430
  • [4] Schimke Immunoosseous Dysplasia - A case presentation
    Spanou, E
    Pierides, A
    Aristidou, K
    Anastasiadou-Christophidou, V
    EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 : 60 - 61
  • [5] Mitochondrial function in Schimke-immunoosseous dysplasia
    Lücke, T
    Ehrich, JHH
    Das, AM
    METABOLIC BRAIN DISEASE, 2005, 20 (03) : 237 - 242
  • [6] Schimke immunoosseous dysplasia: a russian cohort study
    Milovanova, Anastasiia
    Ananin, Petr
    Vashurina, Tatiana
    Zrobok, Olga
    Savostyanov, Kirill
    Tsygin, Alexey
    PEDIATRIC NEPHROLOGY, 2024, 39 (01) : S306 - S307
  • [7] SPONDYLOEPIPHYSEAL DYSPLASIA WITH NEPHROTIC SYNDROME (SCHIMKE IMMUNOOSSEOUS DYSPLASIA)
    SANTAVA, A
    ZAPLETALOVA, J
    MICHALKOVA, K
    HANAKOVA, S
    KOPRIVA, F
    SANTAVY, J
    DUSEK, J
    KLEINOVA, D
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 49 (03): : 270 - 273
  • [8] Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia)
    Rottenberg, GT
    Shaw, DG
    Hall, CM
    JOURNAL OF PEDIATRIC ORTHOPAEDICS-PART B, 1997, 6 (01): : 7 - 10
  • [9] Schimke immunoosseous dysplasia:: Suggestions of genetic diversity
    Clewing, J. Marietta
    Fryssira, Helen
    Goodman, David
    Smithson, Sarah F.
    Sloan, Emily A.
    Lou, Shu
    Huang, Yan
    Chow, Kunho
    Luecke, Thomas
    Alpay, Harika
    Andre, Jean-Luc
    Asakura, Yumi
    Biebuyck-Gouge, Nathalie
    Bogdanovic, Radovan
    Bonneau, Dominique
    Cancrini, Caterina
    Cochat, Pierre
    Cockfield, Sandra
    Collard, Laure
    Cordeiro, Isabel
    Cormier-Daire, Valerie
    Cransberg, Karlien
    Cutka, Karel
    Deschenes, Georges
    Ehrich, Jochen H. H.
    Frund, Stefan
    Georgaki, Helen
    Guillen-Navarro, Encarna
    Hinkelmann, Barbara
    Kanariou, Maria
    Kasap, Belde
    Kilic, Sara Sebnem
    Lama, Guiliana
    Lamfers, Petra
    Loirat, Chantal
    Majore, Silvia
    Milford, David
    Morin, Denis
    Ozdemir, Nihal
    Pontz, Bertram F.
    Proesmans, Willem
    Psoni, Stavroula
    Reichenbach, Herbert
    Reif, Silke
    Rusu, Cristina
    Saraiva, Jorge M.
    Sakallioglu, Onur
    Schmidt, Beate
    Shoemaker, Lawrence
    Sigaudy, Sabine
    HUMAN MUTATION, 2007, 28 (03) : 273 - 283
  • [10] Schimke immunoosseous dysplasia: defining skeletal features
    Hunter, Kshamta B.
    Luecke, Thomas
    Spranger, Juergen
    Smithson, Sarah F.
    Alpay, Harika
    Andre, Jean-Luc
    Asakura, Yumi
    Bogdanovic, Radovan
    Bonneau, Dominique
    Cairns, Robyn
    Cransberg, Karlien
    Fruend, Stefan
    Fryssira, Helen
    Goodman, David
    Helmke, Knut
    Hinkelmann, Barbara
    Lama, Guiliana
    Lamfers, Petra
    Loirat, Chantal
    Majore, Silvia
    Mayfield, Christy
    Pontz, Bertram F.
    Rusu, Cristina
    Saraiva, Jorge M.
    Schmidt, Beate
    Shoemaker, Lawrence
    Sigaudy, Sabine
    Stajic, Natasa
    Taha, Doris
    Boerkoel, Cornelius F.
    EUROPEAN JOURNAL OF PEDIATRICS, 2010, 169 (07) : 801 - 811