Frequency of the cholesteryl ester storage disease commonLIPAE8SJM mutation (c.894G>A) in various racial and ethnic groups

A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2

(2012) John Hamilton et al.   CLINICA CHIMICA ACTA

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

(2012) Naga Chalasani et al.   HEPATOLOGY

Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens

(2012) Helena Hůlková et al.   HISTOPATHOLOGY

Diagnosis of Nonalcoholic Fatty Liver Disease in Children and Adolescents

(2012) Pietro Vajro et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

A Genome-Wide Association Study Identifies LIPA as a Susceptibility Gene for Coronary Artery Disease

(2011) Philipp S. Wild et al.   Circulation-Cardiovascular Genetics

Lysosomal lipase deficiency: Molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease

(2011) Tommaso Fasano et al.   MOLECULAR GENETICS AND METABOLISM

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

(2011) John F Peden et al.   NATURE GENETICS

Large-Scale Gene-Centric Analysis Identifies Novel Variants for Coronary Artery Disease

(2011)   PLoS Genetics

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

(2010) Stuart A. Scott et al.   HUMAN MUTATION

CombinedCYP2C9,VKORC1andCYP4F2frequencies among racial and ethnic groups

(2010) Stuart A Scott et al.   PHARMACOGENOMICS

Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene

(2009) Livia Pisciotta et al.   MOLECULAR GENETICS AND METABOLISM

Warfarin Pharmacogenetics: CYP2C9 and VKORC1 Genotypes Predict Different Sensitivity and Resistance Frequencies in the Ashkenazi and Sephardi Jewish Populations

(2008) Stuart A. Scott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease

(2008) Amanda J. Hooper et al.   CLINICA CHIMICA ACTA