Lysosomal Acid Lipase Deficiency: Wolman Disease and Cholesteryl Ester Storage Disease

Lysosomal acid lipase deficiency: Wolman disease/cholesteryl ester storage disease

Atlas of Inherited Metabolic Diseases ◽

10.1201/9781315114033-94 ◽

2020 ◽

pp. 713-720

Author(s):

Christian Staufner

Keyword(s):

Cholesteryl Ester ◽

Storage Disease ◽

Acid Lipase ◽

Wolman Disease ◽

Lysosomal Acid ◽

Lysosomal Acid Lipase ◽

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

10.1016/j.ymgme.2011.11.066 ◽

2012 ◽

Vol 105 (2) ◽

pp. S32

Author(s):

Gregory A. Grabowski ◽

Laurie Bailey ◽

T. Andrew Burrow

Keyword(s):

Cholesteryl Ester ◽

Chart Review ◽

Storage Disease ◽

Acid Lipase ◽

Wolman Disease ◽

Lysosomal Acid ◽

Lysosomal Acid Lipase ◽

Enzyme replacement therapy corrects Lysosomal Acid Lipase Deficiency (LALD) in a mouse model of Wolman disease/cholesteryl ester storage disease

10.1016/j.ymgme.2010.11.065 ◽

2011 ◽

Vol 102 (2) ◽

pp. S19

Author(s):

Gregory Grabowski ◽

Hong Du ◽

Brian Pescatore ◽

Alla Romashko ◽

Muthu Meiyappan ◽

...

Keyword(s):

Mouse Model ◽

Enzyme Replacement Therapy ◽

Cholesteryl Ester ◽

Replacement Therapy ◽

Storage Disease ◽

Acid Lipase ◽

Wolman Disease ◽

Lysosomal Acid ◽

Enzyme Replacement ◽

Lysosomal Acid Lipase Deficiency Impairs Regulation ofABCA1Gene and Formation of High Density Lipoproteins in Cholesteryl Ester Storage Disease

Journal of Biological Chemistry ◽

10.1074/jbc.m111.274381 ◽

2011 ◽

Vol 286 (35) ◽

pp. 30624-30635 ◽

Cited By ~ 62

Author(s):

Kristin L. Bowden ◽

Nicolas J. Bilbey ◽

Leanne M. Bilawchuk ◽

Emmanuel Boadu ◽

Rohini Sidhu ◽

...

Keyword(s):

Cholesteryl Ester ◽

Storage Disease ◽

High Density ◽

High Density Lipoproteins ◽

Acid Lipase ◽

Lysosomal Acid ◽

Lysosomal Acid Lipase ◽

Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice

The Journal of Lipid Research ◽

10.1194/jlr.m700482-jlr200 ◽

2008 ◽

Vol 49 (8) ◽

pp. 1646-1657 ◽

Cited By ~ 42

Author(s):

Hong Du ◽

Terri L. Cameron ◽

Stephen J. Garger ◽

Gregory P. Pogue ◽

Lee A. Hamm ◽

...

Keyword(s):

Cholesteryl Ester ◽

Storage Disease ◽

Acid Lipase ◽

Wolman Disease ◽

Lysosomal Acid ◽

A practical fluorometric assay method to measure lysosomal acid lipase activity in dried blood spots for the screening of cholesteryl ester storage disease and Wolman disease

10.1016/j.ymgme.2013.11.003 ◽

2014 ◽

Vol 111 (2) ◽

pp. 193-196 ◽

Cited By ~ 15

Author(s):

Takenori Dairaku ◽

Takeo Iwamoto ◽

Minami Nishimura ◽

Masahiro Endo ◽

Toya Ohashi ◽

...

Keyword(s):

Cholesteryl Ester ◽

Lipase Activity ◽

Storage Disease ◽

Dried Blood Spots ◽

Assay Method ◽

Acid Lipase ◽

Wolman Disease ◽

Lysosomal Acid ◽

Blood Spots ◽

42. Wolman disease/cholesteryl ester storage disease: Efficacy of plant-produced human lysosomal acid lipase in mice

10.1016/j.ymgme.2008.11.043 ◽

2009 ◽

Vol 96 (2) ◽

pp. S21

Author(s):

Hong Du ◽

Terri Cameron ◽

Stephen Garger ◽

Gregory Pogue ◽

Lee Hamm ◽

...

Keyword(s):

Cholesteryl Ester ◽

Storage Disease ◽

Acid Lipase ◽

Wolman Disease ◽

Lysosomal Acid ◽

Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene

10.1016/j.ymgme.2017.11.008 ◽

2018 ◽

Vol 123 (2) ◽

pp. 169-176 ◽

Cited By ~ 9

Author(s):

Terje Vinje ◽

Lene Wierød ◽

Trond P. Leren ◽

Thea Bismo Strøm

Keyword(s):

Cholesteryl Ester ◽

Storage Disease ◽

Functional Characterization ◽

Acid Lipase ◽

Lipase Gene ◽

Lysosomal Acid ◽

Lysosomal Acid Lipase ◽

Hypercholesterolemic Subjects

Different missense mutations in histidine‐108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals

Human Mutation ◽

10.1002/(sici)1098-1004(1998)12:1<44::aid-humu7>3.3.co;2-f ◽

1998 ◽

Vol 12 (1) ◽

pp. 44-51

Author(s):

Stefan Ries ◽

Christa Büchler ◽

Gisela Schindler ◽

Charalampos Aslanidis ◽

Detlev Ameis ◽

...

Keyword(s):

Cholesteryl Ester ◽

Storage Disease ◽

Compound Heterozygous ◽

Missense Mutations ◽

Acid Lipase ◽

Lysosomal Acid ◽

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

Journal of Pediatric Gastroenterology and Nutrition ◽

10.1097/mpg.0000000000000175 ◽

2015 ◽

Vol 60 (3) ◽

pp. e22-e24 ◽

Cited By ~ 6

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 ◽