(Q46078301)

19 December 2017

title

Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene (English)

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19 December 2017

author name string

Livia Pisciotta

1

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19 December 2017

Raffaele Fresa

2

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19 December 2017

Antonella Bellocchio

3

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19 December 2017

Elisabetta Pino

4

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19 December 2017

Virgilia Guido

5

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19 December 2017

Alfredo Cantafora

6

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19 December 2017

Maja Di Rocco

7

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19 December 2017

Sebastiano Calandra

8

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19 December 2017

Stefano Bertolini

9

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19 December 2017

publication date

26 February 2009

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19 December 2017

Molecular Genetics and Metabolism

published in

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19 December 2017

volume

97

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19 December 2017

issue

2

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19 December 2017

page(s)

143-148

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19 December 2017

Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.007

Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.007

In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesteryl esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.007

Genomic organization of the human lysosomal acid lipase gene (LIPA).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.007

Prevalence of lysosomal storage disorders

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.007

Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.007

Prevalence of cholesteryl ester storage disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.007

Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.007

Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.007

Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.007

A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.007

Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.007

Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.007

Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction muta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.007

Suppression of apolipoprotein B production during treatment of cholesteryl ester storage disease with lovastatin. Implications for regulation of apolipoprotein B synthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.007

A novel mutation of the apolipoprotein A-I gene in a family with familial combined hyperlipidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.007

Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.007

Molecular regulation of HDL metabolism and function: implications for novel therapies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.007

10.1016/J.YMGME.2009.02.007

7 January 2021

Identifiers

DOI

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19 December 2017

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19 December 2017