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Journal of Neurology, ISSN 0340-5354, 7/2017, Volume 264, Issue 7, pp. 1334 - 1342
Journal Article
The Journal of Pathology, ISSN 0022-3417, 12/2018, Volume 246, Issue 4, pp. 470 - 484
Journal Article
Journal Article
Annual Review of Biochemistry, ISSN 0066-4154, 6/2019, Volume 88, Issue 1, pp. 461 - 485
Journal Article
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
Journal Article
Journal Article
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
Journal Article
Journal Article
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
Journal Article