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
来源：
MOLECULAR GENETICS AND METABOLISM | 2012年 / 105卷 / 02期
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
  • [1] Lysosomal lipase deficiency: Molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease
    Fasano, Tommaso
    Pisciotta, Livia
    Bocchi, Letizia
    Guardamagna, Ornella
    Assandro, Paola
    Rabacchi, Claudio
    Zanoni, Paolo
    Filocamo, Mirella
    Bertolini, Stefano
    Calandra, Sebastiano
    MOLECULAR GENETICS AND METABOLISM, 2012, 105 (03) : 450 - 456
  • [2] Development of an animal model for Wolman's disease and cholesteryl ester storage disease: A lysosomal acid lipase deficiency
    Witte, D
    Du, H
    Duanmu, M
    Grabowski, G
    LABORATORY INVESTIGATION, 1999, 79 (01) : 6P - 6P
  • [3] CHOLESTERYL ESTER STORAGE DISEASE AND WOLMAN DISEASE - PHENOTYPIC VARIANTS OF LYSOSOMAL ACID CHOLESTERYL ESTER HYDROLASE DEFICIENCY
    HOEG, JM
    DEMOSKY, SJ
    PESCOVITZ, OH
    BREWER, HB
    AMERICAN JOURNAL OF HUMAN GENETICS, 1984, 36 (06) : 1190 - 1203
  • [4] Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency
    Pericleous, Marinos
    Kelly, Claire
    Wang, Tim
    Livingstone, Callum
    Ala, Aftab
    LANCET GASTROENTEROLOGY & HEPATOLOGY, 2017, 2 (09): : 670 - 679
  • [5] CT FINDINGS IN ACID LIPASE DEFICIENCY - WOLMAN DISEASE AND CHOLESTERYL ESTER STORAGE DISEASE
    HILL, SC
    HOEG, JM
    DWYER, AJ
    VUCICH, JJ
    DOPPMAN, JL
    JOURNAL OF COMPUTER ASSISTED TOMOGRAPHY, 1983, 7 (05) : 815 - 818
  • [6] Lysosomal Acid Lipase Deficiency: Diagnosis and Treatment of Wolman and Cholesteryl Ester Storage Diseases
    Porto, Anthony F.
    PEDIATRIC ENDOCRINOLOGY REVIEWS PER, 2014, 12 : 125 - 132
  • [7] Cholesteryl Ester Storage Disease: Protean Presentations of Lysosomal Acid Lipase Deficiency
    Zhang, Bingnan
    Porto, Anthony F.
    JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 2013, 56 (06): : 682 - 685
  • [8] New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease
    Pagani, F
    Pariyarath, R
    Garcia, R
    Stuani, C
    Burlina, AB
    Ruotolo, G
    Rabusin, M
    Baralle, FE
    JOURNAL OF LIPID RESEARCH, 1998, 39 (07) : 1382 - 1388
  • [9] Enzyme replacement therapy corrects Lysosomal Acid Lipase Deficiency (LALD) in a mouse model of Wolman disease/cholesteryl ester storage disease
    Grabowski, Gregory
    Du, Hong
    Pescatore, Brian
    Romashko, Alla
    Meiyappan, Muthu
    Martini, Paolo
    Charnas, Lawrence
    Gomez-Yafal, Alicia
    Xu, You-Hai
    Westmoreland, Oluwaseyi
    Stanton, Lori
    Grabowski, Gregory
    MOLECULAR GENETICS AND METABOLISM, 2011, 102 (02) : S19 - S19
  • [10] Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice
    Du, Hong
    Cameron, Terri L.
    Garger, Stephen J.
    Pogue, Gregory P.
    Hamm, Lee A.
    White, Earl
    Hanley, Kathleen M.
    Grabowski, Gregory A.
    JOURNAL OF LIPID RESEARCH, 2008, 49 (08) : 1646 - 1657
12345