Associated Papers
A Form of Metabolic-Associated Fatty Liver Disease Associated with a Novel LIPA Variant.
Anushiravani A et al.
Archives of Iranian Medicine, 2023
Natural history and management of liver dysfunction in lysosomal storage disorders.
Sen Sarma M et al.
World Journal of Hepatology, 2022
Genetic and Transcriptional Contributions to Relapse in Normal Karyotype Acute Myeloid Leukemia.
Petti AA et al.
Blood Cancer Discovery, 2022
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency.
Del Angel G et al.
Human Mutation, 2019
Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity.
Vinje T et al.
Human Molecular Genetics, 2019
Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights.
Cappuccio G et al.
Journal of Inherited Metabolic Disease, 2019
The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD.
Carter A et al.
Journal of Hepatology, 2019
Lysosomal acid lipase deficiency allograft recurrence and liver failure- clinical outcomes of 18 liver transplantation patients.
Bernstein DL et al.
Molecular Genetics and Metabolism, 2018
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.
Pisciotta L et al.
Atherosclerosis, 2017
Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development.
Aguisanda F et al.
Current Chemical Genomics and Translational Medicine, 2017
Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency.
Santillán-Hernández Y et al.
World Journal of Gastroenterology, 2015
Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis.
Reynolds T
Journal of Clinical Pathology, 2013
Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.
Bernstein DL et al.
Journal of Hepatology, 2013
Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.
Fasano T et al.
Molecular Genetics and Metabolism, 2012