Wolman disease due to homozygosity for a novel truncated variant of lysosomal acid lipase (351insA) associated with complete in situ acid lipase deficiency

被引：0
|
作者：
Seedorf, U
Heiko, W
Sandro, M
Ertan, M
Harald, F
Gerd, A
机构：
[1] UNIV MUNSTER,INST ARTERIOSKLEROSEFORSCH,D-4400 MUNSTER,GERMANY
[2] UNIV HEIDELBERG,HEIDELBERG,GERMANY
来源：
CIRCULATION | 1996年 / 94卷 / 08期
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：196 / 196
页数：2
相关论文
共 50 条
  • [41] Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa
    Su, Kim
    Donaldson, Emma
    Sharma, Reena
    APPLICATION OF CLINICAL GENETICS, 2016, 9 : 157 - 167
  • [42] Is Lysosomal Acid Lipase (LAL) deficiency a cause of atypical nonalcoholic fatty liver disease ?
    Abdullah, Khalid
    Abrol, Robinder
    Ortiz, Herman
    Welsh, Maria
    Zela, Scott A.
    Egwim, Chukwuma I.
    Ankoma-Sey, Victor
    HEPATOLOGY, 2016, 64 : 589A - 589A
  • [43] Severe and rapid disease course in the natural history of infants with lysosomal acid lipase deficiency
    Jones, Simon A.
    Bernstein, Donna
    Bialer, Martin
    Dhawan, Anil
    Hendriksz, Chris
    Whitley, Chester B.
    Banikazemi, Maryam
    Chang, Alicia
    Guardamagna, Ornella
    Raiman, Julian
    Gamal, Iman
    Selim, Laila
    Cederbaum, Stephen
    Di Rocco, Maja
    Domm, Jennifer
    Enns, Gregory
    Finegold, David
    Gargus, Jay
    Zaki, Osama
    Eckert, Stephen
    Schneider, Eugene
    Quinn, Anthony G.
    Valayannopouloss, Vassili
    MOLECULAR GENETICS AND METABOLISM, 2014, 111 (02) : S57 - S58
  • [44] Is lysosomal acid lipase activity associated with the presence and severity of coronary artery disease?
    Kiziltunc, Emrullah
    Gokalp, Sabire
    Biberoglu, Gursel
    Yalcin, Yakup
    Cihan, Burcu
    Oktem, Ridvan M.
    Inci, Asli
    Tumer, Leyla
    Yalcin, Mehmet R.
    Abaci, Adnan
    HERZ, 2024, 49 (01) : 75 - 80
  • [45] Lysosomal Acid Lipase Deficiency Unmasked in Two Children With Nonalcoholic Fatty Liver Disease
    Himes, Ryan W.
    Barlow, Sarah E.
    Bove, Kevin
    Quintanilla, Norma M.
    Sheridan, Rachel
    Kohli, Rohit
    PEDIATRICS, 2016, 138 (04)
  • [46] LYSOSOMAL ACID LIPASE ACTIVITY DEFICIENCY IN CHILDREN WITH LIVER DISEASE: WHAT ELSE COULD IT BE?
    Ranucci, G.
    Zollo, G.
    Di Dato, F.
    Puoti, G.
    Lepore, L.
    Iorio, R.
    DIGESTIVE AND LIVER DISEASE, 2016, 48 : E258 - E258
  • [47] Early diagnosis and successful long-term management of a rare, severe lysosomal acid lipase deficiency/Wolman disease patient: Infancy to age five
    Cossette, Antoine
    Castilloux, Julie
    Bouffard, Chantal
    Laflamme, Julie
    Faure, Christophe
    Benlamlih, Sami
    Abel, Florian
    Beecroft, Michael
    Francis, Mira
    Drouin, Regen
    CANADIAN LIVER JOURNAL, 2022, 5 (03): : 428 - 434
  • [48] EFFICACY OF RECOMBINANT HUMAN LYSOSOMAL ACID LIPASE (RHLAL) IN THE LAL-DEFICIENT YOSHIDA RAT, A MODEL FOR WOLMAN DISEASE
    Powell, Jan
    Felice, Brian
    Savioli, Nancy
    Neal, Charlene A.
    Lotterhand, Jason
    Huang, Yan
    Rivas, Israel
    Pan, Jing
    Charnas, Lawrence
    Heartlein, Michael
    Calias, Pericles
    HEPATOLOGY, 2011, 54 : 926A - 926A
  • [49] A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease
    Fujiyama, J
    Sakuraba, H
    Kuriyama, M
    Fujita, T
    Nagata, K
    Nakagawa, H
    Osame, M
    HUMAN MUTATION, 1996, 8 (04) : 377 - 380
  • [50] TRIGLYCERIDE AND ACID LIPASE DEFICIENCY IN TRIGLYCERIDE STORAGE-DISEASE, A POSSIBLE VARIANT OF WOLMANS DISEASE
    TANDT, WRD
    PHILIPPART, M
    NAKATANI, S
    DURAND, P
    PEDIATRIC RESEARCH, 1973, 7 (04) : 346 - 346
12345