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22.300  Articles
1 of 2.230 pages  |  10  records  |  more records»
ABSTRAKSekitar 80-90% pasien cystic fibrosis akan mengalami pancreatic insuffiency. Keadaan ini akan menyebabkan terjadinya malabsorpsi lemak dan protein dan akan berpengaruh pada status nutrisi dari pasien. Terapi dari terjadinya pancreatic insufficiency... see more

Treatment of Fabry disease has improved since the introduction of enzyme replacement therapy (ERT). Two preparations of the recombinantenzyme a-galactosidase A are available: agalsidase alfa and agalsidase beta. We aim to report on a disease improvement a... see more

Fabry disease (FD) is a relatively rare X-linked hereditary disease caused by mutations in the GLA gene that results in deficient a-galactosidase A (a-Gal A) enzyme activity. The disturbed catabolism of the neutral sphingolipids globotriaosylceramide (Gb3... see more

Pompe Disease, also known as glycogenosis type 2, is due to deficiency in lysosomal alpha- glucosidase, a lysosomal hydrolase, which presents infantile and late onset subtypes (LOPD). The myopathy in LOPD can be reversed by Enzyme Replacement Therapy (ERT... see more

We discuss a 56-year-old man with Fabry disease (FD), a genetic X-linked glycolipid storage disorder. The patient presented at the Emergency Room in a local hospital due to tachycardia-associated chest pain, which had occurred occasionally in the past, bu... see more

Protein therapy exhibits several advantages over small molecule drugs and is increasingly being developed for the treatment of disorders ranging from single enzyme deficiencies to cancer. Cell-penetrating peptides (CPPs), a group of small peptides capable... see more

ABSTRACTBackground: Congenital hypothyroidism remains as one of the most common causes of hearing loss in children, considering that thyroid hormone plays an essential role in the development and maturation of auditory organs. Purpose: To report a case of... see more

Fabry disease (FD) is a relatively rare X-linked hereditary disease caused by mutations in the GLA gene that results in deficient a-galactosidase A (a-Gal A) enzyme activity. The disturbed catabolism of the neutral sphingolipids globotriaosylceramide (Gb3... see more

Aims. A prophylaxis program for the early detection of colorectal cancer carried out by our department since the year 2000 has been extended to include people aged 65 and older. The subjects were asked additional questions regarding their dietary habits a... see more

1 of 2.230 pages  |  10  records  |  more records»