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
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.
Enhancing the diagnosis of Fabry disease in cardiology with a targeted information: a before-after control-impact study
Savary et al.AL, Morello R, Brasse-Lagnel C, Milliez P, Bekri S, Labombarda F.Open Heart 2017;4:e000567.
Commentary by Maria Fuller:
Fabry disease is a rare progressive, inborn error of sphingolipid metabolism arising due to a...
Quantitation of plasmatic lysosphingoymyelin and lysosphingomyelin-509 for differential screening of Riemann-Pick A/B and C diseases
L Kuchara, J. Sikoraa, M.E. Gulinellob, H. Poupetovaa, A. Lugowskac, V. malinovad, H. Jahnovaa, B. Asfawa, J. Ledvinovaa.Anal Biochem.2017 May 15;525:73-77.
Commentary by Maria Fuller:
Niemann-Pick disease is a group of rare inherited metabolic disorders that are difficult to diagnose...
Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study
Jones S.A, Rojas-Caro S, Quinn A.G., Friedman M. et al.Orphanet Journal of Rare Diseases Volume 12, Issue 1, 8 February 2017, Article number 25
Vassili Valayannopoulos, Eugen Mengel, Anais Brassier, Gregory Grabowski
Molecular Genetics and Metabolism, Volume 120, Issue 1-2, January–February 2017, Pages 62 - 66
Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals
J. Pérez-López, L. Ceberio-Hualde, J.S. García-Morillo, J.M. Grau-Junyent, A. Hermida Ameijeiras, M. López-Rodríguez, J.C. Milisenda, M. Moltó Abad, M. Morales-Conejo, J.J. Nava Mateos
Molecular Genetics and Metabolism Reports, March 2017, Pages 92 - 95
Pilot study of the safety and effect of adalimumab on pain, physical function, and musculoskeletal disease in mucopolysaccharidosis types I and II
Lynda E. Polgreen, Alicia Kunin-Batson, Kyle Rudser, Richard K. Vehe, Jeanine J. Utz, Chester B. Whitley, Patricia Dickson
Molecular Genetics and Metabolism Reports, March 2017, Pages 75 - 80
About the Editors
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.