ESPE Yearbook of Paediatric Endocrinology

Nat Rev Nephrol. 2019 May 8. doi: 10.1038/s41581-019-0152-5. [PMID: 31068690].Abstract: www.ncbi.nlm.nih.gov/pubmed/?termZ31068690In brief: In this Evidence-Based Guideline on X-linked hypophosphataemia, the authors identify the criteria for diagnosis of this disease, provide guidance for medi...

In Brief: This is a timely and well-written review on disorders of biomineralization and their fundamental mechanisms and by leading experts in the field. This is mandatory reading for any aspiring endocrinologist.Commentary: Biomineralization is a critical physiological process, and deviations from it can cause various diseases. Recent progress has furthered our understanding of the genetic, molecular, and cellular underpinnings of the disorders of biom...

In Brief: This comprehensive review classifies the known high bone mass (HBM) disorders based on Gene Ontology (GO) nomenclature. The authors emphasize the importance of functional genomics in the discovery of new HBM genes and discuss strategies to improve understanding of the underlying pathogenic mechanisms and inform the development of therapeutic approaches.Commentary: HBM disorders are typically defined by a high areal bone marrow density (BMD) <em...