[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 …
[HTML][HTML] Therapeutic management of hypophosphatemic rickets from infancy to adulthood
A Linglart, M Biosse-Duplan, K Briot… - Endocrine …, 2014 - ec.bioscientifica.com
In children, hypophosphatemic rickets (HR) is revealed by delayed walking, waddling gait,
leg bowing, enlarged cartilages, bone pain, craniostenosis, spontaneous dental abscesses …
leg bowing, enlarged cartilages, bone pain, craniostenosis, spontaneous dental abscesses …
European expert consensus on practical management of specific aspects of parathyroid disorders in adults and in pregnancy: recommendations of the ESE …
J Bollerslev, L Rejnmark, A Zahn, A Heck… - European journal of …, 2022 - academic.oup.com
This European expert consensus statement provides recommendations for the diagnosis
and management of primary hyperparathyroidism (PHPT), chronic hypoparathyroidism in …
and management of primary hyperparathyroidism (PHPT), chronic hypoparathyroidism in …
[HTML][HTML] Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation
Background Increased secretion of growth hormone leads to gigantism in children and
acromegaly in adults; the genetic causes of gigantism and acromegaly are poorly …
acromegaly in adults; the genetic causes of gigantism and acromegaly are poorly …
Ketoconazole in Cushing's disease: is it worth a try?
F Castinetti, L Guignat, P Giraud… - The Journal of …, 2014 - academic.oup.com
Background: The use of ketoconazole has been recently questioned after warnings from the
European Medicine Agencies and the Food and Drug Administration due to potential …
European Medicine Agencies and the Food and Drug Administration due to potential …
[HTML][HTML] Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement
G Mantovani, M Bastepe, D Monk… - Nature Reviews …, 2018 - nature.com
Abstract This Consensus Statement covers recommendations for the diagnosis and
management of patients with pseudohypoparathyroidism (PHP) and related disorders …
management of patients with pseudohypoparathyroidism (PHP) and related disorders …
A randomized, double‐blind, placebo‐controlled, phase 3 trial evaluating the efficacy of burosumab, an anti‐FGF23 antibody, in adults with X‐linked …
In X‐linked hypophosphatemia (XLH), inherited loss‐of‐function mutations in the PHEX
gene cause excess circulating levels of fibroblast growth factor 23 (FGF23), leading to …
gene cause excess circulating levels of fibroblast growth factor 23 (FGF23), leading to …
Diagnosis, genetics, and therapy of short stature in children: a growth hormone research society international perspective
PF Collett-Solberg, G Ambler, PF Backeljauw… - Hormone research in …, 2019 - karger.com
Abstract The Growth Hormone Research Society (GRS) convened a Workshop in March
2019 to evaluate the diagnosis and therapy of short stature in children. Forty-six …
2019 to evaluate the diagnosis and therapy of short stature in children. Forty-six …
TAC3 and TACR3 Defects Cause Hypothalamic Congenital Hypogonadotropic Hypogonadism in Humans
J Young, J Bouligand, B Francou… - The Journal of …, 2010 - academic.oup.com
Context: Missense loss-of-function mutations in TAC3 and TACR3, the genes encoding
neurokinin B and its receptor NK3R, respectively, were recently discovered in kindreds with …
neurokinin B and its receptor NK3R, respectively, were recently discovered in kindreds with …
Growth hormone, insulin-like growth factor-1, and the kidney: pathophysiological and clinical implications
P Kamenický, G Mazziotti, M Lombès… - Endocrine …, 2014 - academic.oup.com
Besides their growth-promoting properties, GH and IGF-1 regulate a broad spectrum of
biological functions in several organs, including the kidney. This review focuses on the renal …
biological functions in several organs, including the kidney. This review focuses on the renal …