Condition: Wolman Disease


rs116928232 in LIPA gene and Wolman Disease PMID 24072694 2013 Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.

PMID 9684740 1998 New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.

PMID 22227072 2012 The c.894G>A mutation was found in homozygosity in four patients and, as compound heterozygosity, in association with a known (p.H295Y and p.G342R) or a novel (p.W140*) mutation in four other CESD patients.

PMID 23485521 2013 Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.

PMID 8254026 1993 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.

PMID 23424026 2013 Additionally, by surveying the available literature, c.894G>A was estimated to account for 60% (95% confidence interval [CI]: 51%-69%) of reported mutations among multiethnic CESD patients.

PMID 21757691 2011 Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease.

PMID 7759067 1995 Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD).

PMID 8617513 1996 Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.

PMID 10562460 1999 Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.

PMID 8146180 1994 Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.

PMID 23430518 2013 Orthotopic liver transplantation in an adult with cholesterol ester storage disease.

PMID 9633819 1998 Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.

PMID 22138108 2012 Structural bases of Wolman disease and cholesteryl ester storage disease.

PMID 8598644 1995 Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease.

PMID 7499245 1995 Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression.

PMID 26452566 2015 Sebelipase alfa: first global approval.

PMID 22227072 2012 The c.894G>A mutation was found in homozygosity in four patients and, as compound heterozygosity, in association with a known (p.H295Y and p.G342R) or a novel (p.W140*) mutation in four other CESD patients.

PMID 8864960 1996 A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred.

PMID 22227072 2012 Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.

PMID 25620107 2015 Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype.

PMID 7833918 1994 A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease.

PMID 9367797 1997 Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase.

PMID 8894696 1996 Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease.

PMID 28502515 2018 Lysosomal acid lipase deficiency in all siblings of the same parents.

PMID 24792990 2014 Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.

PMID 31180157 2019 Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency.

PMID 22227072 2012 The WD patients, all deceased before the first year of age, were homozygous for two novel mutations (c.299+1G>A and c.419G>A) or a mutation (c.796G>T) previously reported as compound heterozygosity in a CESD patient.

PMID 26252914 2015 Clinical Features of Lysosomal Acid Lipase Deficiency.

PMID 11441129 2001 Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease.

PMID 21291321 2011 Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry.

PMID 2129132 1990 Permeability of gentamicin and polymyxin B into the inside of Bacillus subtilis spores.

PMID 23424026 2013 Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.

PMID 23583223 2013 Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 21963785 2011 Intragenic deletion as a novel type of mutation in Wolman disease.

PMID 25624737 2015 Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency.

PMID 24993530 2014 Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency.

PMID 24048164 2015 New diagnostic method for lysosomal acid lipase deficiency and the need to recognize its manifestation in infants (Wolman disease).

PMID 22227072 2012 The c.894G>A mutation was found in homozygosity in four patients and, as compound heterozygosity, in association with a known (p.H295Y and p.G342R) or a novel (p.W140*) mutation in four other CESD patients.

PMID 9554751 1998 A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease.

PMID 10627498 2000 Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease.