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Article of the Month

  • A supplement to Pediatrics: Newborn screening, diagnosis and treatment for Pompe disease

    Pediatrics July 2017, 140 (Supplement 1)

    Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement Priya S. Kishnani, Wuh-Liang Hwu, on behalf...

    Commentary by Katrina Dipple

    This supplement to the journal Pediatrics is devoted entirely to Pompe disease – an important treatable metabolic disorder. The editors Priya D. Kishnani and Wuh-Liang Hwu are leaders in the field and put together a comprehensive look at the current state of the art in newborn...

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About the Editors

All content available on the Paediatric Resource Centre, including original and review articles, commentaries and interviews, guidelines, conference highlights, case reports is independently selected by members of the Editorial Board.

Dr Katrina Dipple

MD, PhD

Katrina M. Dipple has always been interested in biochemistry and medicine. She has a BS in Biochemistry from Indiana University...

Associate Professor Maria Fuller

BAppSc, MAppSc, PhD, FFSc(RCPA)

Maria graduated from the University of Adelaide in the discipline of biochemical genetics. Following post-doctoral training, she established a research...

Paediatric Resource Centre

The Paediatric Resource Centre is dedicated to offering you free access to specially selected peer-reviewed articles, editor’s perspectives, expert interviews, and conference news to keep you informed of the latest developments in the diagnosis, management and treatment of patients with paediatric disorders. These include metabolic disorders and lysosomal storage diseases such as Fabry disease, Pompe disease, Gaucher disease and mucopolysaccharidoses, among others. Led by an Editorial Board of internationally recognised experts Associate Professor Maria Fuller and Dr Katrina Dipple, the Paediatric Resource Centre is editorially independent and freely available to healthcare professionals in Australia and New Zealand. This Resource Centre is hosted by the highly regarded Elsevier journal Molecular Genetics and Metabolism.

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About the journal

Molecular Genetics and Metabolism is a contribution to the understanding of the metabolic basis of disease. The journal publishes articles describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, occasional minireviews reporting timely advances as well as brief communications and letters to the editor are considered.

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The Paediatric Resource Centre is funded by Sanofi Genzyme and developed by Elsevier. Sanofi Genzyme has no editorial control over the content of this Resource Centre. The Resource Centre and all content therein has been subject to an independent editorial review. The content expressed are those of the individual experts and the editorial board governed by Elsevier and do not necessarily express the view of Sanofi Genzyme.