Add to ORKGBibliography: p. 252-281.xiii, 281, [110] p., [11] leaves of plates : ill. ; 35 cm.Identifies and analyses the two 4S mutant alleles in selected patients, in order to test the hypothesis that the mutant genotype could be correlated with the clinical and biochemical phenotype.Thesis (Ph.D.)--University of Adelaide, Faculty of Medicine, 1995
BACKGROUND: Mucopolysaccharidosis type VI (MPS VI; Maroteaux -Lamy syndrome) is an autosomal recessi...
Mucopolysaccharidosis type VI (MPS VI - Maroteaux-Lamy syndrome) is a globally rare lysosomal storag...
Introduction: With its unprecedented throughput, scalability and speed, next-generation sequencing (...
Bibliography: p. 184-215.xvii, 215, [122] p., [21] leaves of plates : ill. ; 30 cm.Aims to clone the...
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 ...
Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive disease caused by mutations in the al...
Introduction: With its unprecedented throughput, scalability and speed, next-generation sequencing (...
Objective(s): Mucopolysaccharidosis VI (MPS VI) or Maroteaux-Lamy syndrome is a rare metabolic disor...
Mucopolysaccharidosis type VI (MPS-VI) is an autosomal recessive lysosomal storage disorder caused b...
Maroteaux-Lamy syndrome, or mucopolysaccharidosis type VI (MPS-VI), is a lysosomal storage disorder ...
Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is produced by the deficiency of t...
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenot...
BACKGROUND: Mucopolysaccharidosis type VI (MPS VI; Maroteaux -Lamy syndrome) is an autosomal recessi...
Mucopolysaccharidosis type VI (MPS VI - Maroteaux-Lamy syndrome) is a globally rare lysosomal storag...
Introduction: With its unprecedented throughput, scalability and speed, next-generation sequencing (...
Bibliography: p. 184-215.xvii, 215, [122] p., [21] leaves of plates : ill. ; 30 cm.Aims to clone the...
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 ...
Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive disease caused by mutations in the al...
Introduction: With its unprecedented throughput, scalability and speed, next-generation sequencing (...
Objective(s): Mucopolysaccharidosis VI (MPS VI) or Maroteaux-Lamy syndrome is a rare metabolic disor...
Mucopolysaccharidosis type VI (MPS-VI) is an autosomal recessive lysosomal storage disorder caused b...
Maroteaux-Lamy syndrome, or mucopolysaccharidosis type VI (MPS-VI), is a lysosomal storage disorder ...
Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is produced by the deficiency of t...
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenot...
BACKGROUND: Mucopolysaccharidosis type VI (MPS VI; Maroteaux -Lamy syndrome) is an autosomal recessi...
Mucopolysaccharidosis type VI (MPS VI - Maroteaux-Lamy syndrome) is a globally rare lysosomal storag...
Introduction: With its unprecedented throughput, scalability and speed, next-generation sequencing (...