Article ID Journal Published Year Pages File Type
10833518 Molecular Genetics and Metabolism 2012 7 Pages PDF
Abstract
► We studied experiences of MPS I patients and parents during their diagnostic odyssey. ► This qualitative study identified five important themes regarding this subject. ► Our results underline the importance of an early diagnosis in MPS I. ► Our results enrich the debate about expanding newborn screening programs for MPS I.
Keywords
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
Preview
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
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