Arts syndrome or phosphoribosyl-pyrophosphate-synthetase-1 (PRPS1) deficiency is
caused by loss-of-function mutations in the PRPS1 gene (Xq22.3). PRPS1 is an initial and …

AS A TIDAL BREATHING TEST, multiple-breath washout (MBW) allows measurement of
functional residual capacity (FRC) and the lung clearance index (LCI), a measure of global …

Recently, Aerococcus urinae, primarily recognized as a common pathogen in elderly women,
has been reported to cause an extremely unpleasant odour of the urine in paediatric …

Nitrogen multiple-breath washout (N 2 MBW) is increasingly used in patients with cystic
fibrosis. The current European Respiratory Society/American Thoracic Society consensus …

Idiopathic Infantile Hypercalcemia (IIH) is characterized by hypercalcemia and hypercalciuria
owing to PTH-independent increases in circulating concentrations of 1,25(OH)2D. At least …

Context Idiopathic infantile hypercalcemia (IIH), an uncommon disorder characterized by
elevated serum concentrations of 1,25 dihydroxyvitamin D (1,25(OH) 2 D) and low parathyroid …

Context Idiopathic infantile hypercalcemia (IIH) is an uncommon disorder with variable clinical
features. The natural history and response to dietary calcium and vitamin D restriction in …

Objective In type 1 diabetes, risk factors associated with impaired bone health contribute to
increased risk of fracture. The aim of this study was to (1): compare the high-resolution …

Primary hyperparathyroidism is a condition that occurs infrequently in children. Parathyroid
carcinoma, as the underlying cause of hyperparathyroidism in this age group, is …

Discussion Lyme disease is a tick-borne infection that is caused by gram-negative spirochetes,
Borrelia species, that induce 3 manifestations: the early and localized presentation as …