[HTML][HTML] Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
D Haffner, F Emma, DM Eastwood… - Nature Reviews …, 2019 - nature.com
X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate
wasting and is associated with severe complications such as rickets, lower limb deformities …
wasting and is associated with severe complications such as rickets, lower limb deformities …
Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications
S Rafaelsen, S Johansson, H Ræder… - European journal of …, 2016 - academic.oup.com
Objective Hereditary hypophosphatemias (HH) are rare monogenic conditions characterized
by decreased renal tubular phosphate reabsorption. The aim of this study was to explore the …
by decreased renal tubular phosphate reabsorption. The aim of this study was to explore the …
Therapeutic effects of anti‐FGF23 antibodies in hypophosphatemic rickets/osteomalacia
Y Aono, Y Yamazaki, J Yasutake… - Journal of Bone and …, 2009 - academic.oup.com
Abstract X‐linked hypophosphatemia (XLH), characterized by renal phosphate wasting, is
the most common cause of vitamin D‐resistant rickets. It has been postulated that some …
the most common cause of vitamin D‐resistant rickets. It has been postulated that some …
[HTML][HTML] Rickets guidance: part I—diagnostic workup
D Haffner, M Leifheit-Nestler, A Grund, D Schnabel - Pediatric Nephrology, 2022 - Springer
Rickets is a disease of the growing child arising from alterations in calcium and phosphate
homeostasis resulting in impaired apoptosis of hypertrophic chondrocytes in the growth …
homeostasis resulting in impaired apoptosis of hypertrophic chondrocytes in the growth …
[HTML][HTML] The phosphatonin pathway: new insights in phosphate homeostasis
SC Schiavi, R Kumar - Kidney international, 2004 - Elsevier
The phosphatonin pathway: New insights in phosphate homeostasis. Serum phosphate
concentrations are maintained within a defined range by processes that regulate the …
concentrations are maintained within a defined range by processes that regulate the …
A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism
CA Brownstein, F Adler… - Proceedings of the …, 2008 - National Acad Sciences
Phosphate homeostasis is central to diverse physiologic processes including energy
homeostasis, formation of lipid bilayers, and bone formation. Reduced phosphate levels due …
homeostasis, formation of lipid bilayers, and bone formation. Reduced phosphate levels due …
Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH)
A Rothenbuhler, D Schnabel, W Högler, A Linglart - Metabolism, 2020 - Elsevier
Early diagnosis, optimal therapeutic management and regular follow up of children with X-
linked hypophosphatemia (XLH) determine their long term outcomes and future quality of …
linked hypophosphatemia (XLH) determine their long term outcomes and future quality of …
Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)
S Sarafrazi, SC Daugherty, N Miller, P Boada… - Human …, 2022 - Wiley Online Library
Abstract X‐linked hypophosphatemia (XLH), the most common form of hereditary
hypophosphatemia, is caused by disrupting variants in the PHEX gene, located on the X …
hypophosphatemia, is caused by disrupting variants in the PHEX gene, located on the X …
Phenotype presentation of hypophosphatemic rickets in adults
SS Beck-Nielsen, K Brusgaard, LM Rasmussen… - Calcified tissue …, 2010 - Springer
Hypophosphatemic rickets (HR) is a group of rare disorders caused by excessive renal
phosphate wasting. The purpose of this cross-sectional study of 38 HR patients was to …
phosphate wasting. The purpose of this cross-sectional study of 38 HR patients was to …