glycemia and a poor response of blood sugar to the adrenaline test. From veiw point of clinical features congenital steatosis of the liver is unable to be dif ferentiated from glycogen storage disease of the liver.1,2) The differential diagnosis between them is achieved only by liver biopsy•\conspicuous fatty liver in congenital steatosis, which is not a common finding of the liver in glycogen ...

Glycogen storage diseases (GSD) affect primarily the liver, skeletal muscle, heart, and sometimes the central nervous system and the kidneys. These unique diseases are quite varied in age of onset of symptoms, morbidity, and mortality. Glycogen storage diseases are classified according to their individual enzyme deficiency. Each of these enzymes regulates synthesis or degradation of glycogen. I...

background and objective: prostate cancer is a prevalent disease around the world. the prostatic specific antigen (psa) test has recently proved itself as a useful method for the diagnosis and examination of patients with prostatic cancer. the objective of this study was to compare the stability of free psa and total psa in different storage settings. materials and methods: samples were obtaine...

diatomaceous earth (de) is a dust composed of fossilized bodies of unicellular algae used as an insecticide. in this study, the insecticidal potential of four iranian de deposits was assessed in adults of oryzaephilus surinamensis (l.). three of de deposits were collected from maragheh, mamaghan, and khorasan jonoobi mines and sayan® formulation was obtained from kimia sabz avar company. the in...

Small molecule chaperones are a promising therapeutic approach for the Lysosomal Storage Disorders (LSDs). Here, we report the discovery of a new series of non-iminosugar glucocerebrosidase inhibitors with chaperone capacity, and describe their structure activity relationship (SAR), selectivity, cell activity phamacokinetics.

In recent years the classification of glycogen storage disease has been based on the demonstration of a specific enzyme defect for each type (14). Type I, glycogenosis or von Gierke's disease, results from the lack of glucose 6-phosphatase (1). Type II, or Pompe's disease, is characterized clinically by the severity of the disease with cardiovascular complications causing death usually before t...

Uncooked cornstarch (UCCS) loads in 14 patients with type 1 glycogenosis revealed that satisfactory glycaemia was achieved for a median of 4.25 hours (range 2.5 to 6). Length of glycaemia was related weakly to UCCS dose, but not to patient age or measures of metabolic control. Careful monitoring is required during UCCS treatment.

Niemann-Pick type C disease (NPC) is a childhood onset neurodegenerative disorder arising from lipid-trafficking defects caused by mutations in the NPC1 or NPC2 gene. Marked accumulation of autophagosomes is a prominent feature of NPC cells, yet a detailed understanding of the disease-associated alterations in autophagy and their role in pathogenesis has been lacking. Prior studies have shown t...