A Novel Variant in the LIPA Gene Associated with Distinct Phenotype
暂无分享,去创建一个
L. Armengol | B. Peterlin | A. Maver | A. Sarajlija | D. Prokić | M. S. Djuricic | I. Kitić | M. Čehić
[1] A. Brassier,et al. Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies , 2020, Orphanet Journal of Rare Diseases.
[2] T. Okuyama,et al. Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry , 2020, International journal of molecular sciences.
[3] D. Hughes,et al. Lysosomal Acid Lipase Deficiency: Therapeutic Options , 2020, Drug design, development and therapy.
[4] M. Murray,et al. Lysosomal Acid Lipase Deficiency , 2020, Contemporary Cardiology.
[5] J. K. Laerdahl,et al. Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity. , 2019, Human molecular genetics.
[6] G. Del Angel,et al. Large‐scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency , 2019, Human mutation.
[7] T. Donti,et al. Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights , 2019, Journal of inherited metabolic disease.
[8] J. Mann,et al. The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD. , 2019, Journal of hepatology.
[9] M. Gelb,et al. Specific Substrate for the Assay of Lysosomal Acid Lipase. , 2018, Clinical chemistry.
[10] W. Clark,et al. Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence , 2018, bioRxiv.
[11] L. D’Antiga,et al. Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants. , 2017, Atherosclerosis.
[12] A. Ala,et al. Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency. , 2017, The lancet. Gastroenterology & hepatology.
[13] Z. Lukacs,et al. Best practice in the measurement and interpretation of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2. , 2017, Clinica chimica acta; international journal of clinical chemistry.
[14] P. Stenson,et al. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies , 2017, Human Genetics.
[15] Divya C Thomas,et al. Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders. , 2016, JIMD reports.
[16] L. Gort,et al. Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease. , 2017, JIMD reports.
[17] Dietmar Kuhl,et al. Revisiting the neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis , 2016, Journal of neurochemistry.
[18] Reena Sharma,et al. Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa , 2016, The application of clinical genetics.
[19] C. Dionisi-Vici,et al. Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism[S] , 2016, Journal of Lipid Research.
[20] E. Favari,et al. Cholesterol trafficking-related serum lipoprotein functions in children with cholesteryl ester storage disease. , 2015, Atherosclerosis.
[21] E. Schaefer,et al. Identification and metabolic profiling of patients with lysosomal acid lipase deficiency. , 2015, Journal of clinical lipidology.
[22] Kees Hovingh,et al. Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction. , 2014, Atherosclerosis.
[23] R. Desnick,et al. Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups , 2013, Hepatology.
[24] R. Desnick,et al. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. , 2013, Journal of hepatology.
[25] Anthony F. Porto,et al. Cholesteryl Ester Storage Disease: Protean Presentations of Lysosomal Acid Lipase Deficiency , 2013, Journal of Pediatric Gastroenterology and Nutrition - JPGN.
[26] Y. Deshaies,et al. Association of LIPA Gene Polymorphisms With Obesity‐Related Metabolic Complications Among Severely Obese Patients , 2012, Obesity.
[27] M. Elleder,et al. Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens , 2012, Histopathology.
[28] M. Filocamo,et al. Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease. , 2012, Molecular genetics and metabolism.
[29] A. Levin,et al. Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test. , 2008, Clinical journal of the American Society of Nephrology : CJASN.
[30] J. Yagüe,et al. Prevalence of Fabry Disease in a Cohort of 508 Unrelated Patients With Hypertrophic Cardiomyopathy , 2007 .
[31] M. V. van Breemen,et al. Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases. , 2005, Acta paediatrica (Oslo, Norway : 1992). Supplement.
[32] L. Peltonen,et al. Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. , 2000, American journal of human genetics.
[33] D. Häussinger,et al. Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction mutation. , 1999, Journal of hepatology.
[34] G. Schmitz,et al. Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. , 1996, Genomics.
[35] C. Eckerskorn,et al. Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase. , 1994, European journal of biochemistry.
[36] R. Markin,et al. Orthotopic liver transplantation for cholesteryl ester storage disease. , 1991, Journal of clinical gastroenterology.