Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease (Q83193229)

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19 January 2020

title

Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease (English)

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19 January 2020

Tommaso Fasano

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19 January 2020

Livia Pisciotta

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19 January 2020

Letizia Bocchi

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19 January 2020

Ornella Guardamagna

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19 January 2020

Paola Assandro

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19 January 2020

Claudio Rabacchi

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19 January 2020

Paolo Zanoni

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19 January 2020

Mirella Filocamo

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19 January 2020

Stefano Bertolini

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19 January 2020

Sebastiano Calandra

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publication date

17 December 2011

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Molecular Genetics and Metabolism

19 January 2020

published in

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volume

105

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issue

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page(s)

450-456

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

19 January 2020

cites work

1 reference

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

7 January 2021

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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

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

7 January 2021

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Prevalence of lysosomal storage disorders

7 January 2021

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

7 January 2021

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

7 January 2021

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Cholesterol ester storage disease (CESD) diagnosed in an asymptomatic adult

7 January 2021

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Combined hyperlipidaemia as a presenting sign of cholesteryl ester storage disease

7 January 2021

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Recognition and elimination of nonsense mRNA.

7 January 2021

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A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease

7 January 2021

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Cholesteryl Ester Storage Disease: Relationship between Molecular Defects andin SituActivity of Lysosomal Acid Lipase

7 January 2021

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

7 January 2021

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

7 January 2021

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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

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Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease

7 January 2021

1 reference

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

7 January 2021

1 reference

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10.1016/J.YMGME.2011.12.008

7 January 2021

Identifiers

DOI

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19 January 2020

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