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Oncotarget, ISSN 1949-2553, 05/2018, Volume 9, Issue 36, p. 24283
Systemic amyloidosis is a rare disease involving multiple organs. It is difficult to establish diagnosis as the symptoms is diverse and non-specific. And... 
Journal Article
The Journal of Cell Biology, ISSN 0021-9525, 5/2005, Volume 169, Issue 3, pp. 425 - 434
Journal Article
Journal Article
Toxicology, ISSN 0300-483X, 2017, Volume 387, pp. 95 - 107
Abstract Perfluoroalkyl acids (PFAAs) are ubiquitous and persistent environmental contaminants. Compounds such as perfluoroocanoic acid (PFOA), perfluorooctane... 
Emergency | Peroxisome proliferator-activated receptor α | STAT5B | Peroxisome proliferator-activated receptor γ | Perfluoroalkyl acid | Transcript profiling | Liver | Estrogen receptor alpha | ToxCast | Constitutive activated receptor | SPRAGUE-DAWLEY RATS | Peroxisome proliferator-activated receptor gamma | HEPATOCELLULAR HYPERTROPHY | NUCLEAR RECEPTORS | Peroxisome proliferator-activated receptor alpha | CELL-PROLIFERATION | PROLIFERATOR-ACTIVATED-RECEPTOR | AMMONIUM PERFLUOROOCTANOATE | PERFLUOROOCTANE SULFONATE PFOS | DEVELOPMENTAL TOXICITY | IN-VIVO | PHARMACOLOGY & PHARMACY | TOXICOLOGY | PERFLUORINATED COMPOUNDS | Hepatomegaly - pathology | Fluorocarbons - toxicity | Transcription, Genetic - drug effects | Liver - pathology | Estrogens - pharmacology | Oligonucleotide Array Sequence Analysis | Humans | Databases, Genetic | Male | Mice, 129 Strain | PPAR gamma - metabolism | STAT5 Transcription Factor - metabolism | Estrogen Receptor alpha - agonists | Liver - drug effects | Estrogen Receptor alpha - metabolism | Chemical and Drug Induced Liver Injury - pathology | PPAR gamma - genetics | Liver - metabolism | Computational Biology | Gene Expression Regulation | Gene Expression Profiling - methods | PPAR alpha - genetics | Receptors, Cytoplasmic and Nuclear - agonists | Receptors, Cytoplasmic and Nuclear - genetics | Chemical and Drug Induced Liver Injury - genetics | Hepatomegaly - genetics | Pyrimidines - pharmacology | Sulfonic Acids - toxicity | Mice, Knockout | PPAR alpha - deficiency | Animals | Estrogen Receptor alpha - genetics | Signal Transduction - drug effects | Chemical and Drug Induced Liver Injury - metabolism | Hepatomegaly - chemically induced | PPAR gamma - agonists | PPAR alpha - agonists | Hepatomegaly - metabolism | Anticholesteremic Agents - pharmacology | Receptors, Cytoplasmic and Nuclear - metabolism | Index Medicus | peroxisome proliferator | liver | constitutive activated receptor | activated receptor γ | estrogen receptor alpha | perfluoroalkyl acid | transcript profiling | peroxisome proliferator-activated receptor α
Journal Article
Nature, ISSN 0028-0836, 05/2017, Volume 545, Issue 7653, pp. 234 - 237
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 01/2014, Volume 443, Issue 3, pp. 1073 - 1077
Journal Article
Toxicologic Pathology, ISSN 0192-6233, 10/2012, Volume 40, Issue 7, pp. 971 - 994
Journal Article
Atherosclerosis, ISSN 0021-9150, 10/2017, Volume 265, pp. 124 - 132
Childhood/Adult-onset Lysosomal Acid Lipase Deficiency (LAL-D) is a recessive disorder due to loss of function variants of LAL, the enzyme which hydrolyses... 
LIPA gene variants | Cholesteryl ester storage disease | Lysosomal acid lipase deficiency | Liver disease | INTIMA-MEDIA THICKNESS | WOLMAN-DISEASE | CARDIAC & CARDIOVASCULAR SYSTEMS | SEBELIPASE ALPHA | PHENOTYPE | ESTER STORAGE DISEASE | HISTIDINE | PERIPHERAL VASCULAR DISEASE | HUMAN GASTRIC LIPASE | Haplotypes | Sterol Esterase - therapeutic use | Liver - pathology | Liver Transplantation | Follow-Up Studies | Hepatomegaly - enzymology | Humans | Child, Preschool | Hepatomegaly - therapy | Infant | Male | Wolman Disease - diagnosis | Sterol Esterase - deficiency | Wolman Disease - therapy | Hypercholesterolemia - drug therapy | Time Factors | DNA Mutational Analysis | Hypercholesterolemia - enzymology | Liver - diagnostic imaging | Cholesterol, LDL - blood | Female | Retrospective Studies | Liver - surgery | Child | Liver Function Tests | Enzyme Replacement Therapy | Genetic Predisposition to Disease | Europe | Gene Frequency | Wolman Disease - enzymology | Treatment Outcome | Biomarkers - blood | Hepatomegaly - genetics | Homozygote | Phenotype | Sterol Esterase - genetics | Biopsy | Adolescent | Age of Onset | Hepatomegaly - diagnosis | Hypercholesterolemia - diagnosis | Heterozygote | Hypolipidemic Agents - therapeutic use | Polymorphism, Single Nucleotide | Hypercholesterolemia - genetics | Mutation | Wolman Disease - genetics | Lipase
Journal Article
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 03/2012, Volume 287, Issue 10, pp. 7345 - 7356
Journal Article