scholarly journals CT features of Wolman disease (lysosomal acid lipase enzyme deficiency) – A case report

2021 ◽  
Vol 16 (10) ◽  
pp. 2857-2861
Author(s):  
Naqibullah Foladi ◽  
Mohammad Tahir Aien
Keyword(s):  
Case Report ◽  
Enzyme Deficiency ◽  
Acid Lipase ◽  
Wolman Disease ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Lipase Enzyme ◽  
Ct Features

scholarly journals Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease

2001 ◽  
Vol 42 (7) ◽  
pp. 1033-1040 ◽  
Author(s):  
Oliver Zschenker ◽  
Nikola Jung ◽  
Julia Rethmeier ◽  
Sabine Trautwein ◽  
Stefanie Hertel ◽  
...  
Keyword(s):  
Signal Peptide ◽  
Acid Lipase ◽  
Wolman Disease ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Mature Polypeptide

New Diagnostic Method for Lysosomal Acid Lipase Deficiency and the Need to Recognize Its Manifestation in Infants (Wolman Disease)

2015 ◽  
Vol 60 (3) ◽  
pp. e22-e24 ◽  
Author(s):  
Mariana Gómez-Nájera ◽  
Hilario Barajas-Medina ◽  
Mayra C. Gallegos-Rivas ◽  
Pedro Mendez-Sashida ◽  
Kendrick A. Goss ◽  
...  
Keyword(s):  
Diagnostic Method ◽  
Acid Lipase ◽  
Wolman Disease ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Lysosomal Acid Lipase Deficiency

scholarly journals Lysosomal Acid Lipase Deficiency Leading to Liver Cirrhosis: a Case Report of a Rare Variant Mutation

2019 ◽  
Vol 18 (1) ◽  
pp. 230-235
Author(s):  
Marlone Cunha-Silva ◽  
Daniel F.C. Mazo ◽  
Bárbara R. Corrêa ◽  
Tirzah M. Lopes ◽  
Raquel C. Arrelaro ◽  
...  
Keyword(s):  
Liver Cirrhosis ◽  
Case Report ◽  
Rare Variant ◽  
Acid Lipase ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Lysosomal Acid Lipase Deficiency

Cholesteryl Ester Storage Disease: Case Report during Childhood

1999 ◽  
Vol 2 (6) ◽  
pp. 574-576 ◽  
Author(s):  
Zuhal Akçören ◽  
Safiye Göğüş ◽  
Nurten Koçak ◽  
Figen Gürakan ◽  
Hasan Özen ◽  
...  
Keyword(s):  
Case Report ◽  
Liver Biopsy ◽  
Cholesteryl Ester ◽  
Lipase Activity ◽  
Storage Disease ◽  
Cholesteryl Esters ◽  
Acid Lipase ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Disease Case

Cholesteryl ester storage disease (CESD) is rare and characterized by accumulation of cholesteryl esters and triglycerides in many tissues due to the deficiency of lysosomal acid lipase. We report a 3½-year-old child with CESD. The diagnosis was indicated by liver biopsy and confirmed by reduced acid lipase activity in leukocytes.

A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease

1996 ◽  
Vol 8 (4) ◽  
pp. 377-380 ◽  
Author(s):  
Jiro Fujiyama ◽  
Hitoshi Sakuraba ◽  
Masaru Kuriyama ◽  
Takehisa Fujita ◽  
Kazuya Nagata ◽  
...  
Keyword(s):  
Japanese Patient ◽  
Acid Lipase ◽  
Lipase Gene ◽  
New Mutation ◽  
Wolman Disease ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase

Plasma oxysterols as a putative biomarker for infantile onset lysosomal acid lipase deficiency (Wolman disease)

2017 ◽  
Vol 120 (1-2) ◽  
pp. S52-S53 ◽  
Author(s):  
Arunabha Ghosh ◽  
James Cooper ◽  
Heather Church ◽  
Simon A. Jones ◽  
HoiYee Wu
Keyword(s):  
Acid Lipase ◽  
Wolman Disease ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Lysosomal Acid Lipase Deficiency
Sign in / Sign up

Export Citation Format

Share Document