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Watch exclusive interviews from EHA Congress 2017 where experts discuss Gaucher disease

Dr Carolina Rivera and Dr Jhon Olaya on need for algorithm to aid Gaucher disease diagnosis

Drs Rivera and Drs Olaya discuss the need for an algorithm to facilitate the early diagnosis of Gaucher disease and...

Dr William Morello on improving diagnosis of Gaucher disease

Dr Morello discusses the difficulties of diagnosing Gaucher disease and why it's important to make an early diagnosis of Gaucher...

Dr William Morello on preliminary results of the GAU-PED study

Dr Morello discusses preliminary results of the GAU-PED study he presented at the EHA 2017 meeting. The abstract of the...

Latest editor's commentary

Latest articles

  • Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience

    Barbara K. Burton MD, Joel Charrow MD, George E. Hoganson MD, Darrell Waggoner MD, Brad Tinkle MD, Stephen R. Braddock MD, Michael Schneider MD, PhD, Dorothy K. Grange MD, Claudia Nash MS, Heather Shryock , Rebecca Barnett BA, Rong Shao PhD, Khaja Basheeruddin PhD, George Dizikes PhD

    The Journal of Pediatrics, Available online 17 July 2017

    Commentary by Maria Fuller

    This article adds to the current growing interest in newborn screening for lysosomal diseases. As the number of diseases that are amenable to FDA approved treatment continues to expand and clinical trials commence for new therapeutic agents, newborn screening provides a catchment for affected individuals. Evidence...

  • Psychosine, a marker of Krabbe phenotype and treatment effect

    M.L. Escolar, B.T. Kiely, E. Shawgo, X. Hong, M.H. Gelb, J.J. Orsini, D. Matern, M.D. Poe.

    Molecular Genetics and Metabolism, July 2017, Volume 121, Issue 3, Pages 271-278

    Commentary by Katrina Dipple

    Escolar et al report that psychosine is a marker for Krabbe disease. Elevated psychosine can be seen from the newborn dried blood spots and elevated levels are associated with a high risk of developing Krabbe disease. Longitudinal assessments showed that the psychosine levels in untreated...

  • Cognitive and motor functioning in elderly glucocerebrosidase mutation carriers

    Eileen E. Moran, Cuiling Wang, Mindy Katz, Laurie Ozelius, Alison Schwartz, Jelena Pavlovic, Roberto A. Ortega, Richard B. Lipton, Molly E. Zimmerman, Rachel Saunders-Pullman

    Neurobiol Aging. 2017 Jun 24. pii: S0197-4580(17)30206-3. doi: 10.1016/j.neurobiolaging.2017.06.010. [Epub ahead of print]

    Commentary by Maria Fuller

    There has been much discussion and research of late surrounding the connection between mutations causative of Gaucher disease and Parkinson’s disease. Historically classified as type I Gaucher disease, patients with this phenotype were believed to be spared any neurological disease, but more recently this notion has...

  • C26-ceramide as highly sensitive biomarker for the diagnosis of Farber disease

    Claudia Cozma, Marius-Ionuț Iurașcu, Sabrina Eichler, Marina Hovakimyan, Oliver Brandau, Susanne Zielke, Tobias Böttcher, Anne-Katrin Giese, Jan Lukas, Arndt Rolfs

    Scientific Reports 2017 Jul 21;7(1):6149. doi: 10.1038/s41598-017-06604-2

    Commentary by Maria Fuller

    Farber disease is an ultra-rare autosomal recessive sphingolipid disorder arising due to a deficiency in the lysosomal enzyme, acid ceramidase. Consequently, the substrate for this enzyme, ceramide, accumulates in the brain, visceral organs, skin and lymph nodes. The disease manifests with a hoarse voice or weak...

  • Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I

    Roberto Giugliani, Taiane Alves Vieira, Clarissa Gutierrez Carvalho, Maria-Veronica Muñoz-Rojas, Alla N. Semyachkina, Victoria Y. Voinova, Susan Richards, Gerald F. Cox, Yong Xue

    Molecular Genetics and Metabolism Reports

    Commentary by Maria Fuller:

    Enzyme replacement therapy is an effective treatment for patients with mucopolysaccharidosis I (MPS I), especially for patients who do not have the Hurler phenotype as the enzyme (laronidase) is unable to cross the blood brain barrier. MPS I patients often develop antibodies, typically IgG, towards the...

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


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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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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