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1. Lipid storage diseases
: enzymatic defects and clinical implications. [Proceedings of a symposium held in Chicago, Ill., April 23-24, 1970. Sponsored by the National Tay-Sachs Society, Chicago Chapter]
by Bernsohn, Joseph, 1914 and Grossman, Herbert J., 1923 and National Tay-Sachs Society. Chicago Chapter
1971, 316
Lipidosis | Lipid metabolism
Book
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2. Lysosomes and storage diseases
by Hers, H.G and Van Hoof, F
1973, 666
Metabolism, Inborn errors of | Lysosomes
Book
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3. Full Text Muscle MRI in neutral lipid storage disease (NLSD)
by Garibaldi, Matteo and Tasca, Giorgio and Diaz-Manera, Jordi and Ottaviani, Pierfancesco and Laschena, Francesco and Pantoli, Donatella and Gerevini, Simonetta and Fiorillo, Chiara and Maggi, Lorenzo and Tasca, Elisabetta and D’Amico, Adele and Musumeci, Olimpia and Toscano, Antonio and Bruno, Claudio and Massa, Roberto and Angelini, Corrado and Bertini, Enrico and Antonini, Giovanni and Pennisi, Elena Maria
Journal of Neurology, ISSN 0340-5354, 7/2017, Volume 264, Issue 7, pp. 1334 - 1342
Neutral lipid storage disease (NLSD) is a rare inherited disorder of lipid metabolism resulting in lipid droplets accumulation in different tissues. Skeletal... 
Lipid storage disease | Neurology | Neurosciences | Medicine & Public Health | NLSD | ABHD5 | Muscle MRI | Neuroradiology | PNPLA2 | ADIPOSE TRIGLYCERIDE LIPASE | ONSET POMPE DISEASE | INVOLVEMENT | PHENOTYPE | PATTERNS | CHANARIN-DORFMAN-SYNDROME | MYOPATHY | MISSENSE MUTATIONS | CLINICAL NEUROLOGY | PNPLA2 GENE | Severity of Illness Index | Humans | Middle Aged | Male | Tomography, X-Ray Computed | Adipose Tissue - diagnostic imaging | Lipid Metabolism, Inborn Errors - diagnostic imaging | Ichthyosiform Erythroderma, Congenital - diagnostic imaging | Magnetic Resonance Imaging | Muscle, Skeletal - diagnostic imaging | Adolescent | Lower Extremity | Adult | Female | Italy | Upper Extremity | Aged | Muscular Diseases - diagnostic imaging | Cohort Studies | Care and treatment | Usage | Lipid metabolism disorders | Diagnosis | Magnetic resonance imaging | Limbs | Lipids | Lipid metabolism | Skeletal muscle | Leg | Myopathy | Ichthyosis | Index Medicus | Original Communication
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4. Lipid storage diseases
: enzymatic defects and clinical implications
by Bernsohn, Joseph, 1914 and Grossman, Herbert J., 1923 and National Tay-Sachs and Allied Diseases Association. Chicago Chapter
1971, ix, 316
Lipids | Congresses | Metabolism | Disorders
Book
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5. Full Text The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy
by Fischer, J and Lefevre, C and Morava, E and Mussini, J.M and Laforet, P and Negre-Salvayre, A and Lathrop, M and Salvayre, R
Nature Genetics, ISSN 1061-4036, 2007, Volume 39, Issue 1, pp. 28 - 30
Neutral lipid storage disease comprises a heterogeneous group of autosomal recessive disorders characterized by systemic accumulation of triglycerides in... 
PROTEIN | LIPOLYSIS | METABOLISM | CGI-58 | FAMILY-MEMBERS | GENETICS & HEREDITY | CHANARIN-DORFMAN-SYNDROME | EXPRESSION | Humans | Cells, Cultured | Phospholipases A - metabolism | Lipase | Lipidoses - genetics | Transfection | Phospholipases A - genetics | RNA Interference | DNA Mutational Analysis | Phospholipases A - chemistry | Female | Muscular Diseases - genetics | Mutation | Complications and side effects | Care and treatment | Genetic disorders | Gene mutations | Physiological aspects | Diagnosis | Research | Risk factors | Proteins | Ribonucleic acid | Genetics | Lipids | Ribonucleic acid--RNA | Index Medicus | Lipidoses | Muscular Diseases | Phospholipases A
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6. Full Text Excessive dietary lipid intake provokes an acquired form of lysosomal lipid storage disease in the kidney
by Rampanelli, Elena and Ochodnicky, Peter and Vissers, Johannes PC and Butter, Loes M and Claessen, Nike and Calcagni, Alessia and Kors, Lotte and Gethings, Lee A and Bakker, Stephan JL and de Borst, Martin H and Navis, Gerjan J and Liebisch, Gerhard and Speijer, Dave and van den Bergh Weerman, Marius A and Jung, Bettina and Aten, Jan and Steenbergen, Eric and Schmitz, Gerd and Ballabio, Andrea and Florquin, Sandrine and Aerts, Johannes MFG and Leemans, Jaklien C
The Journal of Pathology, ISSN 0022-3417, 12/2018, Volume 246, Issue 4, pp. 470 - 484
Obesity and dyslipidaemia are features of the metabolic syndrome and risk factors for chronic kidney disease. The cellular mechanisms connecting metabolic... 
kidney | lipids | chronic kidney disease | lysosomal storage disease | inflammation | multilamellar bodies | metabolism | fibrosis | diet | lysosome | METABOLIC SYNDROME | RENAL-FUNCTION | BODY-FAT DISTRIBUTION | PATHOLOGY | STEROL CARRIER PROTEIN-2 | MASS-SPECTROMETRY | OBESITY-RELATED GLOMERULOPATHY | LYSOPHOSPHATIDIC ACID | ONCOLOGY | ENDOPLASMIC-RETICULUM | CELLULAR CLEARANCE | CATHEPSIN-B | Physiological aspects | Lipids | Chronic kidney failure | Analysis | Transcription | Epithelial cells | Lung | Lysosomes | Lysosomal storage diseases | Phospholipids | Metabolic syndrome | Overnutrition | Risk factors | Deposition | Urine | Efflux | Obesity | Kidneys | Nutrition | Health risks | Epidermis | Inflammation | Dietary intake | Risk analysis | Epithelium | Cholesterol | Electrolytic cells | Lipoproteins | Diet | Fibrosis | Kidney diseases | Metabolic disorders | Vacuoles
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7. Full Text Inherent lipid metabolic dysfunction in glycogen storage disease IIIa
by Li, Xin-Hua and Gong, Qi-Ming and Ling, Yun and Huang, Chong and Yu, De-Min and Gu, Lei-Lei and Liao, Xiang-Wei and Zhang, Dong-Hua and Zhang, Xin-Xin and Hu, Xi-Qi and Han, Yue and Kong, Xiao-Fei
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 12/2014, Volume 455, Issue 1-2, pp. 90 - 97
We studied two patients from a nonconsanguineous family with life-long abnormal liver function, hepatomegaly and abnormal fatty acid profiles. Abnormal liver... 
MCAD | AGL | Glycogen debranching enzyme | Glycogen storage disease type IIIa | GENOMIC DATA | FATTY-ACID SYNTHESIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE-LIVER | KNOCKOUT MICE | HAPLOTYPE ANALYSIS | BIOPHYSICS | INSULIN-RESISTANCE | PPAR-GAMMA | HEPATIC STEATOSIS | EXPRESSION | CARBOXYLASE-2 | Glycogen Storage Disease Type III - metabolism | Gene Expression | Glycogen Storage Disease Type III - diagnosis | Humans | Lipid Metabolism, Inborn Errors - diagnosis | Cells, Cultured | Male | Fatty Acids, Unsaturated - biosynthesis | Glycogen Storage Disease Type III - genetics | Acyl-CoA Dehydrogenase - deficiency | Glycogen Debranching Enzyme System - genetics | Adolescent | Mutation | Fatty Acids - biosynthesis | Glucose metabolism | Glycogen | Index Medicus
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8. Full Text A Liver-Specific Thyromimetic, VK2809, Decreases Hepatosteatosis in Glycogen Storage Disease Type Ia
by Zhou, Jin and Waskowicz, Lauren R and Lim, Andrea and Liao, Xiao-Hui and Lian, Brian and Masamune, Hiroko and Refetoff, Samuel and Tran, Brian and Koeberl, Dwight D and Yen, Paul M
Thyroid, ISSN 1050-7256, 08/2019, Volume 29, Issue 8, pp. 1158 - 1167
Background: Glycogen storage disease type Ia (GSD Ia), also known as von Gierke disease, is the most common glycogen storage disorder. It is caused by the... 
Thyroid Economy: Regulation, Cell Biology, and Thyroid Hormone Metabolism and Action | glycogen storage disease type Ia | autophagy | ACID | lipid metabolism | INDUCTION | mitochondrial biogenesis | NONALCOHOLIC FATTY LIVER | GLUCOSE | THYROID-HORMONES | ENDOCRINOLOGY & METABOLISM | thyroid hormone mimetic | IMPROVES | DYSFUNCTION | VK2809 | HEPATIC LIPID-METABOLISM | BETA AGONIST | Index Medicus
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9. Full Text Dietary exacerbation of metabolic stress leads to accelerated hepatic carcinogenesis in glycogen storage disease type Ia
by Gjorgjieva, Monika and Calderaro, Julien and Monteillet, Laure and Silva, Marine and Raffin, Margaux and Brevet, Marie and Romestaing, Caroline and Roussel, Damien and Zucman-Rossi, Jessica and Mithieux, Gilles and Rajas, Fabienne
Journal of Hepatology, ISSN 0168-8278, 11/2018, Volume 69, Issue 5, pp. 1074 - 1087
Glycogen storage disease type Ia (GSDIa) is a rare genetic disease associated with glycogen accumulation in hepatocytes and steatosis. With age, most adult... 
Epithelial-mesenchymal transition | Cellular defenses | Non-alcoholic fatty liver disease | Hepatocellular adenoma and carcinoma | Tumor suppressor | GLUCOSE-6-PHOSPHATASE | LIPID-METABOLISM | ER STRESS | CELL-DEATH | P53 | G6PC GENE | FATTY LIVER | GASTROENTEROLOGY & HEPATOLOGY | CARCINOMA | HEPATOCELLULAR ADENOMAS | Sucrose | Mesenchyme | Pyruvic acid | Lipids | Hepatocellular carcinoma | Malignancy | Carcinogenesis | High fat diet | Antioxidants | Liver cancer | β-catenin | Mitochondria | Tumorigenesis | Phenotypes | Genetic disorders | Glycogen | Medical treatment | Inflammation | Metabolism | Hypoglycemia | a-fetoprotein | Steatosis | Hepatocytes | Fibrosis | Heparan sulfate proteoglycans | Glycolysis | Endoplasmic reticulum | Metabolic disorders | Phagocytosis | Cancer | Biodiversity and Ecology | Environmental Sciences
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10. Full Text Lysosomal Glycosphingolipid Storage Diseases
by Breiden, Bernadette and Sandhoff, Konrad
Annual Review of Biochemistry, ISSN 0066-4154, 6/2019, Volume 88, Issue 1, pp. 461 - 485
Glycosphingolipids are cell-type-specific components of the outer leaflet of mammalian plasma membranes. Gangliosides, sialic acid-containing... 
glycosphingolipid catabolism | endocytosis | membrane lipids | sphingolipidoses | threshold theory | intralysosomal luminal vesicles | BIOCHEMISTRY & MOLECULAR BIOLOGY | BETA-HEXOSAMINIDASE-A | GM2 ACTIVATOR PROTEIN | SPHINGOMYELINASE ACTIVITY | MOUSE MODELS | NIEMANN-PICK-DISEASE | PARTIAL ENZYME DEFICIENCIES | TAY-SACHS | GANGLIOSIDE GM2 | ACID SPHINGOMYELINASE | MEMBRANE-LIPIDS | Metabolism, Inborn errors of | Membrane lipids | Lipid research | Research | Glycolipids
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11. Full Text Downregulation of SIRT1 signaling underlies hepatic autophagy impairment in glycogen storage disease type Ia
by Cho, Jun-Ho and Kim, Goo-Young and Pan, Chi-Jiunn and Anduaga, Javier and Choi, Eui-Ju and Mansfield, Brian C and Chou, Janice Y
PLoS Genetics, ISSN 1553-7390, 05/2017, Volume 13, Issue 5, pp. e1006819 - e1006819
A deficiency in glucose-6-phosphatase-alpha (G6Pase-alpha) in glycogen storage disease type Ia (GSD-Ia) leads to impaired glucose homeostasis and metabolic... 
MAMMALIAN TARGET | RAPAMYCIN MTOR | OBESITY | METABOLISM | PHOSPHORYLATION | INSULIN-RESISTANCE | MOUSE | GENETICS & HEREDITY | PPAR-GAMMA | GENE-THERAPY | DEFICIENCY | Sirtuin 1 - metabolism | Glucose-6-Phosphatase - genetics | Signal Transduction | Cells, Cultured | Glycogen Storage Disease Type I - metabolism | Hepatocytes - metabolism | PPAR gamma - metabolism | Autophagy | Sirtuin 1 - genetics | Glucose-6-Phosphatase - metabolism | Cyclic AMP Response Element-Binding Protein - genetics | Animals | Glycogen Storage Disease Type I - genetics | Forkhead Transcription Factors - metabolism | Cyclic AMP Response Element-Binding Protein - metabolism | Mice | Autophagy-Related Proteins - genetics | Autophagy-Related Proteins - metabolism | PPAR gamma - genetics | Autophagy (Cytology) | Glucose metabolism | Genetic vectors | Glycogen | Analysis | Research | Genetic transcription | Fatty acids | Protein binding | Transcription factors | Disease | Liver | Genes | Impairment | Childrens health | Homeostasis | Viruses | Lipids | Activation | Glucose | Phosphatase | Defects | Proteins | Control | Fatty liver | Restoration | Rodents | Down-regulation | Forkhead protein | Attenuation | Oxidation | Recycling | Acetylation | Recombinant | Binding | Carbohydrates | Obesity | Enzymes | Abnormalities | Flux | Metabolism | Gene expression | SIRT1 protein | Steatosis | Deacetylation | Insulin resistance | Peroxisome proliferator-activated receptors | Conjugation | Gene therapy | Glucose-6-phosphatase | Phagocytosis | Tumors | Apoptosis | Index Medicus
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12. Full Text Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease
by Bowden, Kristin L and Bilbey, Nicolas J and Bilawchuk, Leanne M and Boadu, Emmanuel and Sidhu, Rohini and Ory, Daniel S and Du, Hong and Chan, Teddy and Francis, Gordon A
Journal of Biological Chemistry, ISSN 0021-9258, 09/2011, Volume 286, Issue 35, pp. 30624 - 30635
ATP-binding cassette transporter A1 (ABCA1) mediates the rate-limiting step in high density lipoprotein (HDL) particle formation, and its expression is... 
LIPID EFFLUX | CULTURED HUMAN-FIBROBLASTS | CELLS | MURINE HEPATOCYTES | NIEMANN-PICK DISEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | APOA-I | PLASMA HDL CHOLESTEROL | C-DISEASE | PARTICLE FORMATION | LIVER-X-RECEPTOR | Chloroquine - metabolism | Recombinant Proteins - metabolism | Wolman Disease - metabolism | Skin - metabolism | Sterols - chemistry | Humans | Lipoproteins, HDL - metabolism | Culture Media, Conditioned - pharmacology | Cholesterol - metabolism | Lipoproteins - metabolism | ATP-Binding Cassette Transporters - metabolism | Cholesterol Ester Storage Disease - metabolism | Mutation | Phospholipids - metabolism | ATP Binding Cassette Transporter 1 | Cholesterol Ester Storage Disease - genetics | Wolman Disease - genetics | Fibroblasts - metabolism | Index Medicus | ABCA1 | Gene Expression | Cholesterol Metabolism | High Density Lipoprotein (HDL) | ABC Transporter | Lipids | Lysosomal Storage Disease
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13. Full Text Cholesteryl ester storage disease – A rare presentation
by Karmaker, Madhabi and Akter, Sarmin and Kabir, Ahmedul and Azad, Khan Abul Kalam and Mollah, Abid Hossain
Journal of Medicine (Bangladesh), ISSN 1997-9797, 2018, Volume 19, Issue 2, pp. 130 - 132
Cholesteryl Ester Storage Disease (CESD) is a rare genetic disease characterized by accumulation of cholesteryl esters and triglycerides in many tissues due to... 
Cholesteryl Ester Storage Disease (CESD) | Cholesteryl esters | Lysosomal Acid Lipase | Triglycerides | Enzymes | Liver diseases | Families & family life | Lipids | Patients | Cholesterol | Medicine | Hospitals | Genetic counseling | Acids | Vomiting | Growth hormones | Mutation | Age
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14. Full Text Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens
by Hůlková, Helena and Elleder, Milan
Histopathology, ISSN 0309-0167, 06/2012, Volume 60, Issue 7, pp. 1107 - 1113
Hůlková H & Elleder M 
(2012) Histopathology   60, 1107–1113 Distinctive histopathological features that support a diagnosis of cholesterol ester storage... 
diagnostic recommendations | immunohistochemistry | lysosomal markers | liver biopsy | lysosomal acid lipase deficiency | Immunohistochemistry | Liver biopsy | Lysosomal acid lipase deficiency | Diagnostic recommendations | Lysosomal markers | PATHOLOGY | CELL BIOLOGY | Wolman Disease - pathology | Diagnosis, Differential | Liver - pathology | Cholesterol Ester Storage Disease - diagnosis | Fatty Liver - metabolism | Lysosome-Associated Membrane Glycoproteins - metabolism | Wolman Disease - metabolism | Fatty Liver - pathology | Humans | Liver - metabolism | Child, Preschool | Infant | Lipid Metabolism | Wolman Disease - diagnosis | Cathepsin D - metabolism | Fatty Liver - diagnosis | Non-alcoholic Fatty Liver Disease | Cholesterol Ester Storage Disease - metabolism | Child | Cholesterol Ester Storage Disease - pathology | Lysosomal-Associated Membrane Protein 2 | Cohort Studies | Index Medicus
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15. Full Text Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I – A link to metabolic control
by Hornemann, Thorsten and Alecu, Irina and Hagenbuch, Niels and Zhakupova, Assem and Cremonesi, Alessio and Gautschi, Matthias and Jung, Hans H and Meienberg, Fabian and Bilz, Stefan and Christ, Emanuel and Baumgartner, Matthias R and Hochuli, Michel
Molecular Genetics and Metabolism, ISSN 1096-7192, 09/2018, Volume 125, Issue 1-2, pp. 73 - 78
Background: 1-Deoxysphingolipids (1-deoxySLs) are atypical sphingolipids. They are formed during sphingolipid de novo synthesis by the enzyme serine... 
GSD | Lipids | Glycogen storage disease | Glucose | Deoxysphingolipids | Metabolism | MEDICINE, RESEARCH & EXPERIMENTAL | NEUROPATHY TYPE-1 | MANAGEMENT | HYPERLIPIDEMIA | DISORDERS | LIPOGENESIS | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | ACCUMULATION | LIPOPROTEINS | Glycogen Storage Disease Type I - blood | Alanine - blood | Serine - blood | Humans | Male | Serine C-Palmitoyltransferase - genetics | Glycogen Storage Disease Type I - pathology | Young Adult | Sphingolipids - blood | Glycogen Storage Disease Type I - genetics | Sphingolipids - genetics | Adolescent | Glucose - metabolism | Adult | Female | Lipid Metabolism - genetics | Glucose metabolism | Medical research | Enzymes | Glycogen | Analysis | Physiological aspects | Medicine, Experimental | Dextrose | Index Medicus
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16. Full Text Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant
by Latimer, Caitlin S and Schleit, Jennifer and Reynolds, Adam and Marshall, Desiree A and Podemski, Benjamin and Wang, Leo H and Gonzalez-Cuyar, Luis F
Neuromuscular Disorders, ISSN 0960-8966, 07/2018, Volume 28, Issue 7, pp. 606 - 609
Neutral lipid storage disease with myopathy is a rare disorder of lipid metabolism caused by variants in the Patatin-Like Phospholipase Domain Containing 2 ( )... 
Neutral lipid storage disease | PNPLA2 mutation | Muscle biopsy | Myopathy | ADIPOSE TRIGLYCERIDE LIPASE | DEPOSIT CARDIOMYOVASCULOPATHY | NEUROSCIENCES | DEFICIENCY | CLINICAL NEUROLOGY | GENE | MUTATION | ONSET | PNPLA2 | Emigration and immigration
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