Lipid storage diseases

Glycogen storage disease type Ia (GSD Ia), a rare autosomal inherited disorder, is characterized by accumulation of excessive glycogen and fat in the liver. Primary symptoms of GSD Ia include hypoglycemia; metabolic acidosis; elevated levels of lactate, uric acid and lipids; hepatomagaly and growth retardation. Glycogen storage disease type Ia was caused by mutations in the G6PC gene. In this study, mutations in a Vietnamese patient with glycogen storage disease type Ia were analyzed using the whole exome sequencing method. A missense mutation c.356A>T (p.

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(BQ) This book presents two important, closely connected and fundamental areas of research: glycobiology and human diseases. The fi eld of glycobiology is focused upon understanding the chemical structure, metabolism and biological function of simple and complex carbohydrates (glycans) and their glycoconjugates: glycoproteins, glycosaminoproteoglycans and glycolipids. The last three groups of biopolymers are fi nal products of post-translational modifi cation of proteins and lipids and play a pivotal role in cellular homeostasis.

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In order to feed increasing population there is need of solution which can provide quick result which is possible with fungicides. Fungicides are necessary evils to kill unwanted pest and disease causing organisms in the agro-ecosystem. These are indispensible tool for protecting the crops and increasing food production. Soil applications of fungicides have been frequently used to control soil borne fungal diseases. Fungicides are used for killing or inhibiting the growth of fungus.

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(BQ) Continued part 1, part 2 of the document Diagnostic imaging orthopaedics presents the following contents: Menisci, anterior cruciate ligament, medial collateral ligament, overuse syndromes and soft tissue injury, round cell tumors, lipid storage diseases, lipid storage diseases, cartilaginous tumors, ligaments,...

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Human acid sphingomyelinase (haSMase, EC 3.1.4.12) catalyzes the lysosomal degradation ofsphingomyelin to ceramide and phosphorylcholine. An inherited haSMase deficiency leads toNiemann–Pick disease, a severe sphingo-lipid storage disorder. The enzyme was purified and cloned over 10 years ago. Since then, only a fewstructural properties of haSMase have been elucidated.

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