|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease.
|
8894696 |
1996 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Lysosomal acid lipase deficiency in all siblings of the same parents.
|
28502515 |
2018 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Since the severely reduced LAL activity was seen in cells from an adult patient with a mild CESD, we conclude that there is no simple direct correlation between the LAL molecular lesions and the biochemical and clinical phenotypes.
|
9367797 |
1997 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.
|
9684740 |
1998 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients usually present with dyslipidemia and altered liver function and mutations in LIPA gene are the underlying cause of LALD.
|
28502505 |
2018 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene.
|
19307143 |
2009 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.
|
8146180 |
1994 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sebelipase alfa (Kanuma<sup>®</sup>, Kanuma™), the first commercially available recombinant human lysosomal acid lipase (LAL), is approved in various countries worldwide, including those of the EU, the USA and Japan, as a long-term enzyme replacement therapy for patients diagnosed with LAL deficiency (LAL-D), an ultra-rare, autosomal recessive, progressive metabolic liver disease.
|
27878737 |
2016 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.
|
10562460 |
1999 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The dosage of serum lysosomal acid lipase was undetectable and we found the presence of a rare homozygous mutation in the gene associated with the lysosomal acid lipase deficiency, (allele c.386A > G homozygous p.H129R).
|
31113597 |
2020 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The commonest genetic cause of cholesteryl ester storage disease is an exon 8 splice junction variant in the LIPA gene (rs116928232, c.894G>A; E8SJM) previously found to have an allele frequency of 0.0011 (1 in 450 individuals) in a large European population.
|
30056760 |
2019 |
|
Wolman Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.
|
9684740 |
1998 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency.
|
25624737 |
2015 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Loss-of-function mutations in LIPA, the gene that encodes LAL, result in Wolman disease (WD) or cholesteryl ester storage disease (CESD).
|
25450374 |
2014 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
MGD |
Lysosomal acid lipase-deficient mice: depletion of white and brown fat, severe hepatosplenomegaly, and shortened life span.
|
11290820 |
2001 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The complete absence of the lysosomal acid lipase (LAL) enzyme function causes Wolman's Disease that is fatal within the first six months of life.
|
22795295 |
2013 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Identification of rare diseases by screening a population selected on the basis of routine pathology results-the PATHFINDER project: lysosomal acid lipase/cholesteryl ester storage disease substudy.
|
29358478 |
2018 |
|
Wolman Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase.
|
9367797 |
1997 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease.
|
7833918 |
1994 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Since the residual LAL activity is higher and the clinical phenotype based on plasma lipid values and severity of hepatosplenomegaly is milder in this case than in a previously studied case who was homozygous for the E8SJM allele, we conclude that the L336P variant appears to be associated with a phenotypically mild form of CESD.
|
7773732 |
1995 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease.
|
11441129 |
2001 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Wolman disease is a rare autosomal-recessive disorder caused by reduced levels of lysosomal acid lipase.
|
12666227 |
2003 |
|
Wolman Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry.
|
21291321 |
2011 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease.
|
9705237 |
1998 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations at the exon 8/intron 8 transition of the LAL gene have been identified in several CESD and WD patients and are responsible for the manifestation of the disease.
|
8864960 |
1996 |