Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.
about
Does Lysosomial Acid Lipase Reduction Play a Role in Adult Non-Alcoholic Fatty Liver Disease?Capitalizing on the autophagic response for treatment of liver disease caused by alpha-1-antitrypsin deficiency and other genetic diseasesNovel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfaCoronary Artery Disease-Associated LIPA Coding Variant rs1051338 Reduces Lysosomal Acid Lipase Levels and Activity in Lysosomes.A Relative Deficiency of Lysosomal Acid Lypase Activity Characterizes Non-Alcoholic Fatty Liver DiseaseExpression profile of the Schistosoma japonicum degradome reveals differential protease expression patterns and potential anti-schistosomal intervention targets.Hepatic entrapment of esterified cholesterol drives continual expansion of whole body sterol pool in lysosomal acid lipase-deficient miceSebelipase 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 metabolismNovel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiencySingle nucleotide polymorphisms within LIPA (Lysosomal Acid Lipase A) gene are associated with susceptibility to premature coronary artery disease. a replication in the genetic of atherosclerotic disease (GEA) Mexican study.Novel mutation in a patient with cholesterol ester storage disease.Reduced Lysosomal Acid Lipase Activity in Adult Patients With Non-alcoholic Fatty Liver DiseaseLysosomal Acid Lipase Activity Is Reduced Both in Cryptogenic Cirrhosis and in Cirrhosis of Known Etiology.Clinical Features of Lysosomal Acid Lipase Deficiency.Low Serum Lysosomal Acid Lipase Activity Correlates with Advanced Liver DiseaseFrom Loci to Biology: Functional Genomics of Genome-Wide Association for Coronary DiseaseHepatic cholesteryl ester accumulation in lysosomal acid lipase deficiency: non-invasive identification and treatment monitoring by magnetic resonanceGenetic factors that affect nonalcoholic fatty liver disease: A systematic clinical review.A case of abdominal pain with dyslipidemia: difficulties diagnosing cholesterol ester storage disease.Ezetimibe markedly attenuates hepatic cholesterol accumulation and improves liver function in the lysosomal acid lipase-deficient mouse, a model for cholesteryl ester storage disease.Loss of lysosomal membrane protein NCU-G1 in mice results in spontaneous liver fibrosis with accumulation of lipofuscin and iron in Kupffer cells.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.Genetic diseases that predispose to early liver cirrhosis.Genetics of familial hypercholesterolemia.Sebelipase alfa: first global approval.NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls.Metabolic Liver Disease: When to Suspect and How to Diagnose?Hepatocyte-Specific Expression of Human Lysosome Acid Lipase Corrects Liver Inflammation and Tumor Metastasis in lal(-/-) Mice.Quantitation of the rates of hepatic and intestinal cholesterol synthesis in lysosomal acid lipase-deficient mice before and during treatment with ezetimibe.Progression of liver disease in children and adults with lysosomal acid lipase deficiency.Sebelipase Alfa: A Review in Lysosomal Acid Lipase Deficiency.Managing Cardiovascular Risk in Lysosomal Acid Lipase Deficiency.Spleen dimensions are inversely associated with lysosomal acid lipase activity in patients with non-alcoholic fatty liver disease.Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency.Lysosomal lipid hydrolysis provides substrates for lipid mediator synthesis in murine macrophages.Management of Lysosomal Acid Lipase Deficiency for the Gastroenterologist and Hepatologist.
P2860
Q26776043-62747C79-9319-4F03-A762-87E941F1E4DEQ26862688-DD2F86EE-D040-4B5E-8C0A-1B9E414B66ADQ28076525-41D89D5A-6678-4428-AE32-D11CB36E148EQ33727315-04718957-5449-4C3D-92EB-A2BBAEB9DE69Q33838454-27DD59ED-9D4B-4A31-896E-09E526ADE81CQ34281731-CFA1E6DE-B122-4410-B2D2-F746BAB4C304Q34356070-6B05FEEC-3242-4DCC-9F03-E187062E9769Q34373792-2473AE5F-4F3D-487D-88E5-ED50042A84E9Q34463784-843C677E-BC0C-4C03-B731-0304D14FEDCCQ34985915-E3A750BF-9D96-4E90-8C92-B4C88CC173A1Q34999265-3FBEF29F-FD5D-4357-8D5D-B588A167692FQ35101320-ECFECBC6-6B58-4CDA-8706-631780789CDFQ35947534-4562B988-E929-4B8D-B1CC-D3CF29CFFFCFQ36028043-9FE3B563-D273-4F3D-B35D-564FE3CE0405Q36282711-18EE5AB7-98AB-4671-8CCD-D528130619D6Q36743546-0AE6ED24-AF05-49AF-B0DA-1DA3DD66A587Q36890252-2E1B3AE7-4485-406F-88AD-254AF89EE9EDQ37110696-AAD278E9-8D56-4F03-B400-0C700AFC7C5BQ37146192-5BE0505F-DDEE-48F3-872A-ACEFFD8F6C68Q37394917-0FC7B9A4-52D4-459E-AA4F-C661E1B3C234Q37604513-4B1A83A6-C0FA-4DA0-9C7E-8C0F9B270D21Q37621079-E360E16A-7D53-45AA-8493-9327CB7E5591Q37633636-9B836732-9D6C-487E-9975-F38EC08FEC40Q37717441-F6BB6F27-A94B-4A19-92EC-5F11DB18F68CQ37727765-76BA3F94-E8AF-4020-89DF-7BCD54977F11Q38240870-C9C697E7-D88E-46A9-8BE2-510FCF337166Q38364881-58CD9A28-68CB-4C88-9D72-76A22B044564Q38603239-6A0AEC07-3364-4863-9D9D-781B68425CE1Q38652409-BAB27D6D-E7E3-45A3-BC55-4D2C432B4DDDQ38821395-6E4931D5-D429-432A-A3EC-F4EFD3A3B724Q38849047-0B19B94F-36AD-4005-A0EB-87BB41D9982DQ38891202-C6EDF36F-93A8-4195-A0D8-203A1428C3AAQ38893073-0207E7BC-F4F2-44E2-A69E-0667FF05328BQ39017778-6F628D66-4EFF-473D-98A7-930D51052CD8Q39136059-CBE7A2E3-6B8A-41C1-9470-8CD06B106130Q40049884-96A7F79E-C812-4F97-95C9-CE5E41166ABDQ40601754-92C6B16C-E085-4D22-829E-0005438B0CD4Q41043702-01ADB528-0D51-48AA-A2BC-EBD9B8597B10Q41093572-4D9B9D68-E9B4-4C8D-BA81-BDA2FB8ADE29Q41968911-67D76D3E-8D31-42E3-A996-E04464F324B1
P2860
Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.
description
2013 nî lūn-bûn
@nan
2013 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Cholesteryl ester storage dise ...... ith an underdiagnosed disease.
@ast
Cholesteryl ester storage dise ...... ith an underdiagnosed disease.
@en
Cholesteryl ester storage dise ...... ith an underdiagnosed disease.
@nl
type
label
Cholesteryl ester storage dise ...... ith an underdiagnosed disease.
@ast
Cholesteryl ester storage dise ...... ith an underdiagnosed disease.
@en
Cholesteryl ester storage dise ...... ith an underdiagnosed disease.
@nl
prefLabel
Cholesteryl ester storage dise ...... ith an underdiagnosed disease.
@ast
Cholesteryl ester storage dise ...... ith an underdiagnosed disease.
@en
Cholesteryl ester storage dise ...... ith an underdiagnosed disease.
@nl
P2093
P1476
Cholesteryl ester storage dise ...... ith an underdiagnosed disease.
@en
P2093
Donna L Bernstein
Helena Hülkova
Martin G Bialer
Robert J Desnick
P304
P356
10.1016/J.JHEP.2013.02.014
P577
2013-02-26T00:00:00Z