A Historical Chart Review and Longitudinal Follow-Up of Identified Patients with Wolman Disease or Cholesteryl Ester Storage Disease, Lysosomal Acid Lipase Deficiency

被引:0
|
作者
Grabowski, Gregory A. [1 ]
Bailey, Laurie [1 ]
Burrow, T. Andrew [1 ]
机构
[1] Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH USA
关键词
D O I
10.1016/j.ymgme.2011.11.066
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:S32 / S32
页数:1
相关论文
共 50 条
  • [41] CHOLESTEROL ESTER STORAGE DISEASE DUE TO DELETIONS IN THE LYSOSOMAL ACID LIPASE GENE
    AMEIS, D
    BROCKMANN, G
    MERKEL, M
    OSTLUND, RE
    COATES, PM
    YANG, JY
    CORTNER, JA
    FEINMAN, SV
    GRETEN, H
    CIRCULATION, 1993, 88 (04) : 422 - 422
  • [42] CHOLESTERYL ESTER STORAGE DISEASE (ACID LIPASE DEFICIENCY): ANOTHER FACTOR FOR EARLY ATHEROSCLEROSIS DISEASE. EXPERIENCE FROM THE GREEK POPULATION
    Drogari, E.
    Progias, P.
    Koniari, E.
    Manolaki, N.
    Christomanou, H.
    ATHEROSCLEROSIS SUPPLEMENTS, 2010, 11 (02) : 114 - 115
  • [43] Clinical effect of sebelipase alfa on survival and growth in infants with lysosomal acid lipase deficiency (Wolman disease)
    Valayannopoulos, Vassili
    Plantaz, Dominique
    Vara, Roshni
    Eckert, Stephen
    Tripuraneni, Radhika
    Schneider, Eugene
    Quinn, Anthony G.
    Sang, Kim-Hanh Le Quan
    Brassier, Anais
    Arnoux, Jean-Baptiste
    White, Fiona
    Breen, Catherine
    Jones, Simon A.
    MOLECULAR GENETICS AND METABOLISM, 2014, 111 (02) : S108 - S108
  • [44] RECOMBINANT LYSOSOMAL ACID LIPASE NORMALIZES LIVER WEIGHT, TRANSAMINASES AND HISTOPATHOLOGICAL ABNORMALITIES IN AN IN VIVO MODEL OF CHOLESTERYL ESTER STORAGE DISEASE
    Leavitt, M.
    Burt, A. D.
    Hu, W.
    Canty, D.
    Gray, M.
    Bray, A.
    Harvey, A.
    Day, C. P.
    Quinn, A. G.
    JOURNAL OF HEPATOLOGY, 2011, 54 : S358 - S358
  • [45] PURIFICATION OF THE LYSOSOMAL ACID LIPASE AND IMPLICATIONS FOR BIOCHEMICAL GENETICS OF WOLMANS DISEASE AND CHOLESTEROL ESTER STORAGE DISEASE
    WARNER, TG
    DAMBACH, LM
    SHIN, JH
    OBRIEN, JS
    CLINICAL RESEARCH, 1981, 29 (01): : A117 - A117
  • [46] Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease
    Bernstein, Donna L.
    Huelkova, Helena
    Bialer, Martin G.
    Desnick, Robert J.
    JOURNAL OF HEPATOLOGY, 2013, 58 (06) : 1230 - 1243
  • [47] Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype
    Rajamohan, Francis
    Reyes, Allan R.
    Ruangsiriluk, Wanida
    Hoth, Lise R.
    Han, Seungil
    Caspers, Nicole
    Tu, Meihua
    Ward, Jessica
    Kurumbail, Ravi G.
    PROTEIN EXPRESSION AND PURIFICATION, 2015, 110 : 22 - 29
  • [48] Phenotypic correction of lipid storage and growth arrest in Wolman disease fibroblasts by gene transfer of lysosomal acid lipase
    Tietge, UJF
    Sun, GS
    Czarnecki, S
    Yu, QC
    Lohse, P
    Du, H
    Grabowski, GA
    Glick, JM
    Rader, DJ
    HUMAN GENE THERAPY, 2001, 12 (03) : 279 - 289
  • [49] Follow-up of lysosomal disease patients detected by neonatal screening
    Navarrete, Juana I.
    MOLECULAR GENETICS AND METABOLISM, 2016, 117 (02) : S86 - S86
  • [50] NATURAL HISTORY STUDY OF EARLY ONSET LYSOSOMAL ACID LIPASE (LAL) DEFICIENCY (WOLMAN DISEASE) CONFIRMS A SEVERE AND RAPID DISEASE COURSE
    Hendriksz, C.
    Wraith, E.
    Dhawan, A.
    Whitley, C.
    Banikazemi, M.
    Bialer, M.
    Guardamagna, O.
    Jones, S.
    Raiman, J.
    Cederbaum, S.
    DiRocco, M.
    Domm, J.
    Enns, G.
    Finegold, D.
    Simonds, A.
    Eckert, S.
    Schneider, E.
    Quinn, A.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 : S21 - S21