Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. - Wikidata - awgldk - TriplyDB

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

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

http://www.wikidata.org/entity/Q36948239

about

Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa Hepatic entrapment of esterified cholesterol drives continual expansion of whole body sterol pool in lysosomal acid lipase-deficient mice Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency.Lysosomal acid lipase: at the crossroads of normal and atherogenic cholesterol metabolism Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency Lysosomal Acid Lipase Activity: A Tool for the Detection and Management of Fatty Liver Disease?Lysosomal Acid Lipase Activity Is Reduced Both in Cryptogenic Cirrhosis and in Cirrhosis of Known Etiology.Clinical Features of Lysosomal Acid Lipase Deficiency.From Loci to Biology: Functional Genomics of Genome-Wide Association for Coronary Disease Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study.Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development.Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.Genetics of familial hypercholesterolemia.Progression of liver disease in children and adults with lysosomal acid lipase deficiency.Managing Cardiovascular Risk in Lysosomal Acid Lipase Deficiency.Lysosomal acid lipase deficiency: a form of non-obese fatty liver disease (NOFLD).The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency.A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency.Impact of loss of SOAT2 function on disease progression in the lysosomal acid lipase-deficient mouse.IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT.CRISPR/Cas9-Mediated Gene Editing in Human iPSC-Derived Macrophage Reveals Lysosomal Acid Lipase Function in Human Macrophages-Brief Report.Lysosomal Acid Lipase Deficiency, a Rare Pathology: The First Pediatric Patient Reported in Colombia.

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P2860

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

http://www.wikidata.org/entity/Q36948239

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P2860

A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease

Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease.

Large-scale gene-centric analysis identifies novel variants for coronary artery disease

A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.

The diagnosis and management of non-alcoholic fatty liver disease: practice Guideline by the American Association for the Study of Liver Diseases, American College of Gastroenterology, and the American Gastroenterological Association

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.

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

Prevalence of lysosomal storage disorders.

Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations.

Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: a case report.

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