Novel LIPA mutations resulting in lysosomal acid lipase deficiency

被引：0
|
作者：
Reynders, John [1 ]
Burton, Barbara K. [2 ]
del Angel, Guillermo [1 ]
机构：
[1] Alex Pharmaceut Inc, New Haven, CT USA
[2] Northwestern Univ, Feinberg Sch Med, Chicago, IL 60611 USA
来源：
MOLECULAR GENETICS AND METABOLISM | 2017年 / 120卷 / 1-2期
关键词：
D O I：
10.1016/j.ymgme.2016.11.294
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
285
引用
收藏
页码：S114 / S115
页数：2
相关论文
共 50 条
  • [1] Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency
    Yuritzi Santillán-Hernández
    Enory Almanza-Miranda
    Winnie W Xin
    Kendrick Goss
    Aurea Vera-Loaiza
    María T Gorráez-de la Mora
    Raul E Pi?a-Aguilar
    World Journal of Gastroenterology, 2015, (03) : 1001 - 1008
  • [2] Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency
    Santillan-Hernandez, Yuritzi
    Almanza-Miranda, Enory
    Xin, Winnie W.
    Goss, Kendrick
    Vera-Loaiza, Aurea
    Gorraez-de la Mora, Maria T.
    Pina-Aguilar, Raul E.
    WORLD JOURNAL OF GASTROENTEROLOGY, 2015, 21 (03) : 1001 - 1008
  • [3] The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency
    Bychkov, I. O.
    Kamenets, E. A.
    Filatova, A. Yu
    Skoblov, M. Yu
    Mikhaylova, S., V
    Strokova, T., V
    Gundobina, O. S.
    Zakharova, E. Yu
    MOLECULAR GENETICS AND METABOLISM, 2019, 127 (03) : 212 - 215
  • [4] Severe lysosomal ACID lipase deficiency in a greek child homozygous for a novel splicing mutation of the lipa gene
    Pisciotta, L.
    Fresa, R.
    Michelakakis, H.
    Lycopoulou, L.
    Calandra, S.
    Bertolini, S.
    EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, 2017, 47 : 95 - 95
  • [5] Lysosomal acid lipase (LIPA) as a novel therapeutic vulnerability for treating TNBC
    Viswanadhapalli, Suryavathi
    Liu, Xihui
    Pratap, Uday
    Sareddy, Gangadhara R.
    Weintraub, Susan T.
    Raj, Ganesh V.
    Ahn, Jung-Mo
    Vadlamudi, Ratna K.
    CANCER RESEARCH, 2023, 83 (05)
  • [6] LYSOSOMAL ACID LIPASE DEFICIENCY DIAGNOSTICS AND MUTATION SPECTRUM OF LIPA GENE IN COHORT OF PATIENTS WITH HYPERCOLESTEROLEMIA
    Zakharova, Ekaterina
    Kamenets, Elena
    Baydakova, Galina
    Mikhaylova, Svetlana
    Strokova, Tatiana
    Bagaeva, Madlena
    Lavrova, Alla
    Amelina, Maria
    Pichkur, Natalia
    ATHEROSCLEROSIS, 2017, 263 : E60 - E60
  • [7] GENOMIC ORGANIZATION OF THE HUMAN LYSOSOMAL ACID LIPASE GENE (LIPA)
    ASLANIDIS, C
    KLIMA, H
    LACKNER, KJ
    SCHMITZ, G
    GENOMICS, 1994, 20 (02) : 329 - 331
  • [8] Lysosomal acid lipase deficiency
    Zhurkova, Natalya V.
    Vashakmadze, Nato D.
    Bokova, Tatyana A.
    Rykunova, Anastasia I.
    Surkov, Andrey N.
    Gundobina, Olga S.
    Kotalevskaya, Yulia Y.
    Namazova-Baranova, Leyla S.
    MOLECULAR GENETICS AND METABOLISM, 2024, 141 (02)
  • [9] Mutations identified in a cohort of Mexican patients with lysosomal acid lipase deficiency
    Consuelo-Sanchez, Alejandra
    Vazquez-Frias, Rodrigo
    Reyes-De La Rosa, Alejandra
    Acosta-Rodriguez-Bueno, Carlos P.
    Ortal-Vite, Maria P.
    Cebolla, Jorge J.
    ANNALS OF HEPATOLOGY, 2019, 18 (04) : 646 - 650
  • [10] Lysosomal Acid Lipase Deficiency (LALD)
    Moodie, Douglas
    CONGENITAL HEART DISEASE, 2015, 10 (03) : 191 - 192
12345