Schindler disease

Table 47-17. Major features of some diseases (eg, a-mannosidosis, 3-mannosidosis, fucosidosis, sialidosis, aspartylglycosaminuria, and Schindler disease) due to deficiencies of glycoprotein hydrolasesJ...

MIM numbers a-mannosidosis, 248500 3-mannosidosis, 248510 fucosidosis, 230000 sialidosis, 256550 aspartylglycosaminuria, 208400 Schindler disease, 104170. 

Schindler disease (also called lysosomal a-N-acetylgalactosaminidase [a-NAGA] deficiency, Schindler Type) is 1 of the over 40 glycoprotein storage diseases. 

Schindler disease type I, the classic form of the disease, begins in infancy. 

Schindler disease type II, also known as Kanzaki disease, is an adult-onset form of the disease that causes milder symptoms that may not become apparent until the second or third decade of life. 

Other lysosomal storage disorders include G j gangliosidoses, G gangliosidoses, Gaucher disease, Niemann-Pick disease, Fabry disease, fucosidosis, Schindler disease, metachromatic leukodystrophy, Krabbe disease, multiple sulfatase deficiency, Farber disease, and Wolman disease. Table 28-1 illustrates the enzyme deficiencies found in some of these disorders. 

Sanfilippo syndrome, type C Sanfilippo syndrome, type D Santavuori disease Saposin B deficiency Sarcosine dehydrogenase deficiency Scheie syndrome Schindler disease Segawa disease... 

R. Schindler, ed.. Cyclosporin in Autoimmune Diseases, Springer-Vedag, Berlin, 1985. 

Solomon, S.R., Mielke, S., Savani, B.N., Montero, A., Wisch, L., Childs, R., Hensel, N., Schindler, J., Ghetie, V., Leitman, S.F., Mai, T., Carter, C.S., Kurlandcr, R., Read, E.J., Vitetta, E.S., and Barrett, A.J. (2005) Selective depletion of alloreactive donor lymphocytes A novel method to reduce the severity of graft-versus-host disease in older patients undergoing matched sibling donor stem cell transplantation. Blood 106,1123-1129. 

Schindler s disease oc-galactosidase-B N-acetyl-galactosamide glycolipids... 

Schindler D, Kanzaki T, Desnick RJ (1990) A method for the rapid detection of urinary glycopeptides in alpha-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases. Clin Chim Acta 190 81-91... 

Wuthrich B, Schindler C, Leuenberger P, Ackermann-Liebrich U Prevalence of atopy and polli-nosis in the adult population of Switzerland (SAPALDIA study). Swiss Study on Air Pollution and Lung Diseases in Adults. Int Arch Allergy Immunol 1995 106 149-156. 

Amino-2-aryl-tetrahydroquinazolines, (IV), prepared by Schindler (5) were effective in modulating the endogenous production of cGMP and were suitable for treatment of diseased states associated with a disturbed cGMP balance. 

Bucher HC, Hengstler P, Schindler C, Meier G. N-3 polyunsaturated fatty acids in coronary heart disease a meta-analysis of randomized controlled trials. Am. J. Med. 2002 112 298-304. Psota TL, Gebauer SK, Kris-Eflierton P, Dietary omega-3 fatty acid intake and cardiovascular risk. Am. J. Cardiol. 2006 98(suppl) 3i-18i. 

Bucher HC, Hengstler P, Schindler C, Guyatt GH. Percutaneous transluminal coronary angioplasty versus medical treatment for non-acute coronary heart disease meta-analysis of randomised controlled trials. BMJ 2000 Jul 8 321(7253) 73-7. 

Other approaches that are not related to the cholinergic system that are used to treat learning, memory, and cognitive impairment irrespective of disease type are with so-called nootropics (Schindler et al., 1984). These are compounds without either sedative or stimulatory properties that may positively affect blood flow and metabolism in the brain. They tend to share the ability to protect (rats) against chemically induced disruptions of memory deficits and learned avoidance behavior. Among the promising compounds are several 2-(N-acetamido)-pyrrolidones. 

Froesch, M. Bindila, L. Zamfir, A. Peter-Katahnic, J. Siaylation analysis of O-glycosylated siaylated peptides from mine of patients suffering from Schindler s disease by FT-ICR mass spectrometry and SORI-CID. Rapid Commun. Mass Spectrom. 2003,17(24), 2822-2832. 

Schindler TH, Magosaki N et al. (1999) Fusion imaging combined visualization of 3D reconstructed coronary artery tree and 3D myocardial scintigraphic image in coronary artery disease. Int J Card Imaging 15 357-368 discussion 369-370... 

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