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The Paediatric Resource Centre is a free service by Elsevier for healthcare professionals in Australia and New Zealand only.

Paediatric Resource Centre

The Paediatric Resource Centre is dedicated to offering you free access to specially selected peer-reviewed articles, leader perspectives, expert interviews, and congress news to keep you informed of the latest developments in the diagnosis, management and treatment of patients with paediatric disorders. These include metabolic diseases and lysosomal storage disorders (LSDs) such as Gaucher disease, Fabry disease, Pompe disease, or mucopolysaccharidosis (MPS) type I and II. Led by internationally recognised guest editors, 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 internationally recognised journal Molecular Genetics and Metabolism. Sign up to receive our monthly email alerts to stay informed when new content becomes available every month.

Welcome by A/Professor Maria Fuller

Inherited metabolic disorders are frequently considered too rare for inclusion in the primary differential and the wide variety of clinical manifestations inherent in these conditions augments the protracted diagnostic odyssey. Heretofore diagnostic algorithms, more often than not, do not fully inform on disease course, adding further to the diagnostic confusion.

As new, proposed treatments and cascade testing of family members pervade the inherited metabolic disease space, early diagnosis along with accompanying prognosis become increasingly important. Evidence garnered to date has taught us that the efficacy of any therapy will rely heavily upon early detection for treatment initiation before the onset of irreversible pathology.

Contemporary advances in scientific methodologies have benefited from not only an increase in our understanding of the biochemistry of these disorders but also technological progress in laboratory instrumentation. Indeed, the discovery of biomarkers is already making an impact and will undoubtedly lead to improvements in the efficiency of diagnosis.

The Paediatric Resource Centre will charter the latest developments along the trajectory towards timely and accurate diagnoses, closing the gap between individuals remaining un/misdiagnosed and those with an accurate diagnosis. It is a most exciting time to be commenting in this field as new technologies, such as mass spectrometry, facilitate this goal.


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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.

Associate Professor Maria Fuller

Maria currently holds a translational role in Genetics and Molecular Pathology within the South Australian Pathology service to deliver research outcomes into the diagnostic arena.

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WorldSymposium 2017 - Highlights

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.

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.