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Schindler Disease, Type II

Known as: Alpha-N-acetylgalactosaminidase deficiency type 2, NAGA Deficiency, Type II, ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE II 
National Institutes of Health

Related topics

Related topics

10 relations
Autosomal recessive inheritanceDry skinFabry DiseaseHyperkeratosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Application of ion mobility tandem mass spectrometry to compositional and structural analysis of glycopeptides extracted from the urine of a patient diagnosed with Schindler disease.
RATIONALE Schindler disease is caused by the deficient activity of α-N-acetylgalactosaminidase, which leads to an abnormal… 
2014
2014
Synthesis of the enantiomers of XYLNAc and LYXNAc: comparison of β-N-acetylhexosaminidase inhibition by the 8 stereoisomers of 2-N-acetylamino-1,2,4-trideoxy-1,4-iminopentitols.
The enantiomers of XYLNAc (2-N-acetylamino-1,2,4-trideoxy-1,4-iminoxylitol) are prepared from the enantiomers of glucuronolactone… 
2013
2013
Vaspin Inhibits Apoptosis of Endothelial Cells as a Ligand for Cell-Surface GRP78/VDAC Complex
Rationale: Visceral adipose tissue-derived serine proteinase inhibitor (vaspin) is an adipokine identified from visceral adipose… 
2007
2007
A new infantile case of α-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom
Summaryα-N-Acetylgalactosaminidase deficiency is a lysosomal disorder with clinically very different infantile and adult forms… 
2006
2006
Mutations in PLA2G6 and the riddle of Schindler disease
We would like to draw attention to a recent discovery that may explain the striking discordance between the clinical and… 
2002
2002
α-N-Acetylgalactosaminidase from Marine Bacterium Arenibacter latericius KMM 426T Removing Blood Type Specificity of A-Erythrocytes
An α-N-acetylgalactosaminidase IV able to remove blood type specificity of human A(II)-erythrocytes and not effecting B(III… 
2001
2001
Human α-N-acetylgalactosaminidase (α-NAGA) deficiency: no association with neuroaxonal dystrophy?
Two new individuals with α-NAGA deficiency are presented. The index patient, 3 years old, has congenital cataract, slight motor… 
Review
1990
Review
1990
Schindler disease: An inherited neuroaxonal dystrophy due to α-N-acetylgalactosaminidase deficiency
SummaryThe clinical, pathological and biochemical features of a neuroaxonal dystrophy resulting from the deficient activity of… 
1988
1988
α-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder
SummaryA new lysosomal storage disease with autosomal recessive inheritance is described in two male siblings of 5 1/2 and 4… 
1966
1966
Separation of β-N-acetylglucosaminidase and β-N-acetylgalactosaminidase from calf brain cytoplasm
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