REVERSIBLE CAUSE OF MYOPATHY IN A CASE OF LYSINURIC PROTEIN INTOLERANCE

被引：0
|
作者：
Wood, M. [1 ]
Harmar, S. [1 ]
McSweeney, M. [1 ]
Abulhoul, L. [1 ]
机构：
[1] Great Ormond St Hosp Sick Children, London WC1N 3JH, England
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 2010年 / 33卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：S31 / S31
页数：1
相关论文
共 50 条
  • [41] Lysinuric Protein Intolerance: Not Only a Disorder for Pediatric Nephrologists - Case Report
    Rigoldi, Miriam
    Mele, Caterina
    Breno, Matteo
    Noris, Marina
    Imeraj, Amantia
    Gamba, Sara
    Schieppati, Arrigo
    Daina, Erica
    NEPHRON, 2025, 149 (02) : 116 - 124
  • [42] PROTEIN AVOIDANCE AND RESPONSE TO THERAPY IN LYSINURIC PROTEIN INTOLERANCE
    SIDRANSKY, E
    WINTER, RJ
    CLINICAL RESEARCH, 1982, 30 (04): : A793 - A793
  • [43] The molecular bases of cystinuria and lysinuric protein intolerance
    Palacín, M
    Borsani, G
    Sebastio, G
    CURRENT OPINION IN GENETICS & DEVELOPMENT, 2001, 11 (03) : 328 - 335
  • [44] Overview of symptoms and treatment for lysinuric protein intolerance
    Atsuko Noguchi
    Tsutomu Takahashi
    Journal of Human Genetics, 2019, 64 : 849 - 858
  • [45] LEUKOCYTE AND LIVER GLUTAMINASE IN LYSINURIC PROTEIN INTOLERANCE
    SIMELL, O
    VISAKORPI, JK
    PERHEENTUPA, J
    PEDIATRIC RESEARCH, 1972, 6 (10) : 797 - +
  • [46] Combined hyperlipidemia in patients with lysinuric protein intolerance
    Tanner, Laura M.
    Niinikoski, Harri
    Nanto-Salonen, Kirsti
    Simell, Olli
    JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S145 - S150
  • [47] Lung involvement in children with lysinuric protein intolerance
    Valimahamed-Mitha, Sarah
    Berteloot, Laureline
    Ducoin, Heloise
    Ottolenghi, Chris
    de Lonlay, Pascale
    de Blic, Jacques
    JOURNAL OF INHERITED METABOLIC DISEASE, 2015, 38 (02) : 257 - 263
  • [48] Sudden infant death and lysinuric protein intolerance
    deKlerk, JBC
    Duran, M
    Huijmans, JGM
    Mancini, GMS
    EUROPEAN JOURNAL OF PEDIATRICS, 1996, 155 (03) : 256 - 257
  • [49] Unusual pulmonary presentation of lysinuric protein intolerance
    Berthoux, E.
    Durieu, I.
    Guffon, N.
    Sivova, N.
    Gamondes, D.
    Cordier, J. -F.
    Cottin, V.
    REVUE DES MALADIES RESPIRATOIRES, 2010, 27 (07) : 770 - 774
  • [50] IMMUNOLOGICAL ABNORMALITIES IN A PATIENT WITH LYSINURIC PROTEIN INTOLERANCE
    NAGATA, M
    SUZUKI, M
    KAWAMURA, G
    KONO, S
    KODA, N
    YAMAGUCHI, S
    AOKI, K
    EUROPEAN JOURNAL OF PEDIATRICS, 1987, 146 (04) : 427 - 428
12345