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HEXA
Carrier Screening for Genetic Diseases Policy Number: PG0442 ADVANTAGE | ELITE | HMO Last Review: 07/25/2019
Binding of Undamaged Double Stranded DNA to Vaccinia Virus
Low Levels of 18 Hexosaminidase a in Healthy Individuals with Apparent Deficiency of This Enzyme
GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies
Hexosaminidase a in Tay–Sachs Disease
O-Glcnacase Fragment Discovery with Fluorescence Polarimetry
In-Silico Chaperone Model for ATSD and Case Study
Oxidative Demethylation of DNA Damage by Escherichia Coli Alkb
Impaired Β-Glucocerebrosidase Activity and Processing in Frontotemporal Dementia Due to Progranulin Mutations Andrew E
Carrier Detection for Tay-Sachs Disease: a Model for Genetic Disease Prevention
A Novel Uracil-DNA Glycosylase Family Related to the Helix±Hairpin±Helix DNA Glycosylase Superfamily
A New Large Deletion Caused by Alu Elements in HEXA
An Unusual Splicing Mutation in the HEXB Gene Is Associated with Dramatically Different Phenotypes in Patients from Different Racial Backgrounds
Tay-Sachs Disease Testing
Mouse Models of Human Disease. Part II: Recent Progress and Future Directions
Storage Disorders
Catalytic Residues and Substrate Specificity of Recombinant Human Tripeptidyl Peptidase I (CLN2)
Supplementary File 1 (PDF, 225 Kib)
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Glycogenomics of Mycobacterium Tuberculosis
Bi-Functional Igg-Lysosomal Enzyme Fusion Proteins for Brain Drug Delivery Ruben J
Structure of the Uracil Complex of Vaccinia Virus Uracil
Deficiency of the Hexosaminidase a Activator Protein in a Case of GM2 Gangliosidosis; Variant AB
Mechanism of Action of Escherichia Coli Uracil-DNA Glycosylase And
Lysosomal Storage Disease Panel by Next-Generation Sequencing
Sphingolipids in Glomerular Diseases
Expression and Linkage Relationships in Somatic Cell Hybrids (GM2 Gangliosidosis/Lysosomal Enzymes/Anti-Hexosaminidase Sera/Electrophoresis)
A Mutant O-Glcnacase Enriches Drosophila Developmental Regulators
On the Specificity of Starch Debranching Enzymes
Expression and Characterization of Recombinant Human NEIL3 From
Protease-Resistant Modified Human Β-Hexosaminidase B Ameliorates Symptoms in GM2 Gangliosidosis Model
Hyper-O-Glcnacylation Induces Cisplatin Resistance Via Regulation Of
Targeted Disruption of the Hexa Gene Results in Mice with Biochemical
Glycogen and Its Metabolism: Some New Developments and Old Themes
Molecular Regulatory Mechanisms of DNA Damage-Inducible Genes, MAGI and DDII, from S(U:Chmmyces Cerevisiae
Moldx : SMPD1 Genetic Testing
Substituted Pyrazolopyrimidines As
Allelic Variation at the HUYA, HEXB, and GM2A Gene Loci Paulo Cordeiro, MSC',Peter Hechtmatl, P~D'-~,Ard Feige Kaplan, ~Hd-7'
GM2 Gangliosidosis: Clinical Features and Current Therapies
Screening-Based Discovery of Drug-Like O-Glcnacase Inhibitor Scaffolds
Emerging Novel Concept of Chaperone Therapies for Protein Misfolding Diseases
Identification of Novel Mutations in HEXA Gene in Children Affected with Tay Sachs Disease from India
Kinetic Properties and Substrate Inhibition of Α-Galactosidase from Aspergillus Niger
Principles of Molecular and Metabolic Pathogenesis
Tay-Sachs' and Sandhoffs Diseases: the Assignment of Genes
Glcnacstatins Are Nanomolar Inhibitors of Human O-Glcnacase
A Novel Uracil-DNA Glycosylase Family Related to the Helix±Hairpin±Helix DNA Glycosylase Superfamily
Paenibacillus Wynnii Beta-Galactosidase for the Production of Lactose-Depleted Dairy Products
Biochemical Characterization of DNA Glycosylases from Mycobacterium Tuberculosis Yin Guo University of Vermont
Lysosomal Storage Disease in the Brain: Mutations of the Β-Mannosidase Gene Identified in Autosomal Dominant Nystagmus
HEXA Gene Hexosaminidase Subunit Alpha
Comprehensive Analysis of HEXB Protein Reveal Forty Two Novel Nssnps That May Lead to Sandhoff Disease (SD) Using Bioinformatics