Mucopolysaccharidosis type I (MPS‐I) is an autosomal recessive disease caused by
mutations in the α‐L‐iduronidase (IDUA) gene. These mutations lead to a deficiency of the …

The mucopolysaccharidoses represent a devastating group of lysosomal storage diseases
affecting approximately 1 in 25 000 individuals. Advances in biochemistry and genetics over …

… Clarke LA 1 … of IDUA pseudodeficiency as well as a lack of laboratories available to
accurately perform this assay has led to the current use of molecular methods [Clarke 2021]. …

This paper describes a system that attempts to generate test data for programs written in
ANSI Fortran. Given a path, the system symbolically executes the path and creates a set of …

OBJECTIVE: To confirm the efficacy and safety of recombinant human α-L-iduronidase (laronidase)
in patients with mucopolysaccharidosis I (MPS I). STUDY DESIGN: This was a …

The underlying basis of many forms of syndromic craniosynostosis has been defined on a
molecular level. However, many patients with familial or sporadic craniosynostosis do not …

A formal, general model of program dependences is presented and used to evaluate
several dependence-based software testing, debugging, and maintenance techniques. Two …

Huntington disease is associated with an unstable and expanded (CAG) trinucleotide repeat.
We have analysed the CAG expansion in different tissues from 12 affected individuals. All …

OBJECTIVE. Disease management for mucopolysaccharidosis type I has been inconsistent
because of disease rarity (∼1 case per 100000 live births), phenotypic heterogeneity, and …

OBJECTIVE. Our goal was to evaluate the long-term safety and efficacy of recombinant
human α-l-iduronidase (laronidase) in patients with mucopolysaccharidosis I. PATIENTS AND …