Article
Experiences of parents and patients with the timing of Mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening.
Molecular genetics and metabolism - 1 Nov 2012
de Ru Minke H, Bouwman Machtelt G, Wijburg Frits A, van Zwieten Myra C B
Abstract excerpt
INTRODUCTION: Newborn screening (NBS) techniques have been developed for several lysosomal storage disorders (LSDs), including Mucopolysaccharidosis type I (MPS I). MPS I is an LSD with a wide phenotypic spectrum that ranges from the severe Hurler phenotype to the attenuated Scheie phenotype. To improve the ethical discussion about NBS for MPS I, we performed an interview study to explore the experiences of MPS I...
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