Mucopolysaccharidosis type IV: N-Acetylgalactosamine-6-sulfatase mutations in Tunisian patients

Keyphrases

• Mucopolysaccharidosis IVA 100%
• Tunisian Patients 100%
• N-acetylgalactosamine-6-sulfatase 100%
• MPS IVA 100%
• Tunisia 40%
• Severe Disease 20%
• Exon 20%
• Autosomal Recessive 20%
• Prenatal Diagnosis 20%
• Codon 20%
• Donor Splice Site 20%
• Transversion 20%
• Haplotype Analysis 20%
• Lysosomal Storage Disease 20%
• Novel mutation 20%
• Genotype-phenotype Correlation 20%
• Mutation Detection 20%
• First Cousin 20%
• Glycine 20%
• Exon 2 20%
• Common Ancestor 20%
• Sulfated Glycosaminoglycan (sGAG) 20%
• Consanguineous 20%
• Lysosomal Accumulation 20%
• Genomic DNA (gDNA) 20%
• Inborn Errors 20%
• PCR Amplification 20%
• Lysosomal Enzymes 20%
• Carrier Detection 20%
• Molecular Findings 20%
• Exon Junction 20%
• Arginine Substitution 20%
• Bone Dysplasia 20%
• Prenatal Counseling 20%
• Fourth Family 20%
• Normal Intelligence 20%
• Tunisian Families 20%
• Morquio Syndrome 20%

Biochemistry, Genetics and Molecular Biology

• N-Acetylgalactosamine 100%
• Sulfatase 100%
• Morquio Syndrome 100%
• Exon 60%
• Intron 40%
• Enzyme 20%
• Haplotype 20%
• Codon 20%
• Transversion 20%
• Dysplasia 20%
• Autosomal Recessive Inheritance 20%
• Genotype Phenotype Correlation 20%
• Lysosomal Storage Disease 20%
• Mucopolysaccharidosis 20%
• Arginine 20%
• Genomics 20%
• Glycosaminoglycan 20%