Schindler Disease, Type II
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Schindler disease is caused by the deficient activity of α-N-acetylgalactosaminidase, which leads to an abnormal… Expand The enantiomers of XYLNAc (2-N-acetylamino-1,2,4-trideoxy-1,4-iminoxylitol) are prepared from the enantiomers of glucuronolactone… Expand Rationale: Visceral adipose tissue-derived serine proteinase inhibitor (vaspin) is an adipokine identified from visceral adipose… Expand Schindler/Kanzaki disease is an inherited metabolic disease with no current treatment options. This neurologic disease results… Expand Background: The degradation pathway of the intestinal mucin by bifidobacteria is poorly understood. Results: A novel α-N… Expand SummaryA new lysosomal storage disease with autosomal recessive inheritance is described in two male siblings of 5 1/2 and 4… Expand An α-N-acetylgalactosaminidase IV able to remove blood type specificity of human A(II)-erythrocytes and not effecting B(III… Expand Two new individuals with α-NAGA deficiency are presented. The index patient, 3 years old, has congenital cataract, slight motor… Expand O-linked glycopeptides that bear a GalNAc core with and without the presence of sialic acid have been analyzed by high energy… Expand