|
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 |
BEFREE |
LAL deficiency (LAL D) presents and progresses as a continuum with dyslipidemia, hepatomegaly, and liver fibrosis.
|
26350820 |
2016 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
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 |
CLINVAR |
Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype.
|
25620107 |
2015 |
|
Wolman Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical Features of Lysosomal Acid Lipase Deficiency.
|
26252914 |
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 |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Cholesteryl ester storage disease (CESD) is a rare autosomal recessive disease caused by mutations in LIPA.
|
25852113 |
2015 |
|
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 |
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 |
BEFREE |
Lysosomal acid lipase (LAL) deficiency is a rare autosomal recessive disorder which causes two distinct clinical phenotypes: Wolman's disease and cholesterol ester storage disease.
|
24832708 |
2014 |
|
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 |
CLINVAR |
Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.
|
24792990 |
2014 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
CESD is the result of partial loss of LAL and its presentation is more variable.
|
25345094 |
2014 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
LIPA gene mutations result in deficiency of lysosomal acid lipase and present phenotypically as Wolman disease or cholesteryl ester storage disease (CESD) depending on the level of deficiency.
|
23403440 |
2013 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cholesteryl ester storage disease (CESD) is an autosomal recessive lysosomal storage disorder caused by a variety of mutations of the LIPA gene.
|
23999269 |
2013 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications.
|
23583223 |
2013 |
|
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 |
To estimate the prevalence of CESD in different populations, the frequencies of the c.894G>A mutation were determined in 10,000 LIPA alleles from healthy African-American, Asian, Caucasian, Hispanic, and Ashkenazi Jewish individuals from the greater New York metropolitan area and 6,578 LIPA alleles from African-American, Caucasian, and Hispanic subjects enrolled in the Dallas Heart Study.
|
23424026 |
2013 |
|
Wolman Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.
|
23424026 |
2013 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Cholesteryl ester storage disease (CESD) is caused by deficient lysosomal acid lipase (LAL) activity, predominantly resulting in cholesteryl ester (CE) accumulation, particularly in the liver, spleen, and macrophages throughout the body.
|
23485521 |
2013 |
|
Wolman Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.
|
23485521 |
2013 |