|
Wolman Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency.
|
24993530 |
2014 |
|
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 |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Wolman Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Rapidly progressive LAL deficient patients showed negligible enzymatic activity (<1%), whereas patients with childhood/adult LAL deficiency typically have 1-7% average activity.
|
31180157 |
2019 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Presently, a long-term enzyme replacement therapy with Sebelipase alfa, a recombinant human lysosomal acid lipase, is available for patients with LALD.
|
31249784 |
2019 |
|
Wolman Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Permeability of gentamicin and polymyxin B into the inside of Bacillus subtilis spores.
|
2129132 |
1990 |
|
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 |
Our data show that LAL deficiency was not missed as diagnosis in our study population but the frequency of heterozygous LIPA mutations implies that the FH population might be relatively enriched with LIPA mutation carriers.
|
27423329 |
2016 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Orthotopic liver transplantation in an adult with cholesterol ester storage disease.
|
23430518 |
2013 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease.
|
8598644 |
1995 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency.
|
25624737 |
2015 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency.
|
25624737 |
2015 |
|
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 |
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 |
New diagnostic method for lysosomal acid lipase deficiency and the need to recognize its manifestation in infants (Wolman disease).
|
24048164 |
2015 |
|
Wolman Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Mutations within the LIPA gene locus on chromosome 10q23.2-q23.3 may result either in the always fatal Wolman disease, where no LAL activity is found, or in the more benign disorder CESD with a reduced enzymatic activity, leading to massive accumulation of cholesteryl esters and triglycerides in many body tissues.
|
24122380 |
2013 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the LAL gene (LIPA) result in accumulation of triglycerides and cholesterol esters in various tissues of the body, leading to pathological conditions such as Wolman's disease (WD) and cholesteryl ester storage disease (CESD).
|
25620107 |
2015 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in lysosomal acid lipase A (LIPA) result in two phenotypes depending on the extent of lysosomal acid lipase (LAL) deficiency: the severe, early-onset Wolman disease or the less severe cholesteryl ester storage disease (CESD).
|
23652569 |
2013 |
|
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 |
UNIPROT |
Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.
|
8146180 |
1994 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.
|
8146180 |
1994 |
|
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 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Moreover, our results demonstrate that the variable manifestation of CESD can be explained by mutation-dependent, variable inactivation of the LAL enzyme.
|
9633819 |
1998 |
|
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 |
Meta-analysis of existing genetic studies estimated the prevalence of LAL-D as 1 per 160,000 (95% CI 1 per 65,025-761,652) using the allele frequency of c.894G>A in LIPA.
|
30315827 |
2019 |