Measuring Non-reducing Terminal Glycosaminoglycan Fragments increases specificity and differentiates Mucopolysaccharidosis Type I (MPS I) from Mucopolysaccharidosis Type II (MPS II)
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Presenting Author - Taraka Donti, PhD, FACMG; Co-Author - Sara E. Smith, BS, MPS, PhD; Co-Author - Sasha Chernenkoff, BS; Co-Author - Madeline Ellgass, MS; Co-Author - Madhuri Hegde, PhD, FACMG;
Meta Tag
Biochemical genetics
Genetic Testing
Lysosomal Diseases
Metabolic Disorder
Co-Author Sara E. Smith, BS, MPS, PhD
Co-Author Sasha Chernenkoff, BS
Co-Author Madeline Ellgass, MS
Co-Author Madhuri Hegde, PhD, FACMG
Presenting Author Taraka Donti, PhD, FACMG
Keywords
non-reducing terminal glycosaminoglycan fragments
Mucopolysaccharidosis Type I
MPS I
Mucopolysaccharidosis Type II
MPS II
lysosomal storage diseases
enzyme activity testing
false positives
terminal non-reducing fragments
specific MPS disease subtypes

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