December 2013

Table of Contents

Letter from the Editors

Letter from the Editors

M. Ian Phillips, PhD, DSc, FAHA and Tim Coté, MD, MPH

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Physician and Patient Perceptions Regarding Physician Training in Rare Diseases: The Need for Stronger Educational Initiatives for Physicians

Physician and Patient Perceptions Regarding Physician Training in Rare Diseases: The Need for Stronger Educational Initiatives for Physicians

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Recent FDA Orphan Drug Designations I. Without Cancer Drugs(March 25, 2013, to May 30, 2013)

Recent FDA Orphan Drug Designations I. Without Cancer Drugs(March 25, 2013, to May 30, 2013)

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Toward European Guidelines for PKU: How to Speak a Common Language?

Toward European Guidelines for PKU: How to Speak a Common Language?

Annemiek van Wegberg, Msc, François Maillot, MD, PhD, and Francjan van Spronsen, MD, PhD

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Phenotypic Variability in Individuals with Type V Osteogenesis Imperfecta with Identical IFITM5 Mutations

Phenotypic Variability in Individuals with Type V Osteogenesis Imperfecta with Identical IFITM5 Mutations

Jamie Fitzgerald, PhD; Paul Holden, PhD; Hollis Wright, PhD; Beth Wilmot, PhD; Abigail Hata, CGC; Robert D. Steiner, MD; and Don Basel, MD

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Cochrane Corner Enzymes for Inborn Errors: Laronidase (Aldurazyme®) for Treating Mucopolysaccharidosis Type I

Cochrane Corner Enzymes for Inborn Errors: Laronidase (Aldurazyme®) for Treating Mucopolysaccharidosis Type I

Elisabeth Jameson, MBBCh, BSc (Hons), MSc, MRCPCH and Simon Jones, MBChB, BSc (Hons), MRCPCH

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