Introduction: With its unprecedented throughput, scalability and speed, next-generation sequencing (NGS) is revolutionizing clinical research. Targeted sequencing in particular is now implemented in many labs. While being well known that this unparalleled capacity is speeding up molecular diagnostics, it is also true that whenever a novel variant is detected, its pathogenicity must be carefully assessed and every now and again, a case pops up to highlight how tricky and delicate this process can be. Here we present a case of a molecular diagnosis of a patient with a clinical suspicion of MPS type VI, where even though the causal mutation was easy to detect by both Sanger and NGS, only through indirect studies could we present proof of pri...
Background: Molecular investigations of iduronate-2-sulfatase (IDS) mutants for the X-linked lysosom...
Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene ...
Lysosomal storage diseases (LSDs) are a heterogeneous group of genetic disorders with variable degre...
Introduction: With its unprecedented throughput, scalability and speed, next-generation sequencing (...
Introduction: With its unprecedented throughput, scalability and speed, next-generation sequencing (...
Here, we present the molecular diagnosis of a patient with a general clinical suspicion of Mucopolys...
Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disorder caus...
Copyright © 2006 Elsevier Inc. All rights reserved.Mucopolysaccharidosis type VI (MPS VI; Maroteaux-...
Mucopolysaccharidosis type VI (MPS VI), or Maroteaux-Lamy syndrome, is a lysosomal storage disorder ...
Objective(s): Mucopolysaccharidosis VI (MPS VI) or Maroteaux-Lamy syndrome is a rare metabolic disor...
BACKGROUND: Mucopolysaccharidosis type VI (MPS VI; Maroteaux -Lamy syndrome) is an autosomal recessi...
Mucopolysaccharidosis VI is a rare autosomal recessive disorder caused by the deficiency of enzyme A...
Mucopolysaccharidosis IIIB (MPS IIIB) (Sanfilippo Syndrome Type B; OMIM 252920) is an autosomal rece...
Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is produced by the deficiency of t...
Mucopolysaccharidosis (MPS) are a group of rare genetic disorders caused by deficiency in the activi...
Background: Molecular investigations of iduronate-2-sulfatase (IDS) mutants for the X-linked lysosom...
Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene ...
Lysosomal storage diseases (LSDs) are a heterogeneous group of genetic disorders with variable degre...
Introduction: With its unprecedented throughput, scalability and speed, next-generation sequencing (...
Introduction: With its unprecedented throughput, scalability and speed, next-generation sequencing (...
Here, we present the molecular diagnosis of a patient with a general clinical suspicion of Mucopolys...
Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disorder caus...
Copyright © 2006 Elsevier Inc. All rights reserved.Mucopolysaccharidosis type VI (MPS VI; Maroteaux-...
Mucopolysaccharidosis type VI (MPS VI), or Maroteaux-Lamy syndrome, is a lysosomal storage disorder ...
Objective(s): Mucopolysaccharidosis VI (MPS VI) or Maroteaux-Lamy syndrome is a rare metabolic disor...
BACKGROUND: Mucopolysaccharidosis type VI (MPS VI; Maroteaux -Lamy syndrome) is an autosomal recessi...
Mucopolysaccharidosis VI is a rare autosomal recessive disorder caused by the deficiency of enzyme A...
Mucopolysaccharidosis IIIB (MPS IIIB) (Sanfilippo Syndrome Type B; OMIM 252920) is an autosomal rece...
Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is produced by the deficiency of t...
Mucopolysaccharidosis (MPS) are a group of rare genetic disorders caused by deficiency in the activi...
Background: Molecular investigations of iduronate-2-sulfatase (IDS) mutants for the X-linked lysosom...
Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene ...
Lysosomal storage diseases (LSDs) are a heterogeneous group of genetic disorders with variable degre...