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

Volumn 107, Issue 3, 2012, Pages 501-507

  de Ru, Minke H ^a   Bouwman, Machtelt G ^a   Wijburg, Frits A ^a   van Zwieten, Myra C B ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Delayed diagnosis; Lysosomal storage disease; Mucopolysaccharidosis type I; Newborn screening; Qualitative research

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUDIO RECORDING; CHILD; CLINICAL ARTICLE; CLINICAL DECISION MAKING; DELAYED DIAGNOSIS; EARLY DIAGNOSIS; FEMALE; FRUSTRATION; HUMAN; HURLER SYNDROME; MALE; MEDICAL ETHICS; NEWBORN SCREENING; PARENTAL BEHAVIOR; PATIENT ATTITUDE; PERSONAL EXPERIENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; QUALITATIVE RESEARCH; SCHOOL CHILD; SEMI STRUCTURED INTERVIEW;

ADULT; CHILD; CHILD, PRESCHOOL; DELAYED DIAGNOSIS; EARLY DIAGNOSIS; FEMALE; GENETIC COUNSELING; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUCOPOLYSACCHARIDOSIS I; NEONATAL SCREENING; PARENTS; PHENOTYPE; QUESTIONNAIRES; SEVERITY OF ILLNESS INDEX; TIME FACTORS;

EID: 84867900949     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.08.008     Document Type: Article

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