[HTML][HTML] Diagnosis and management of Silver–Russell syndrome: first international consensus statement

EL Wakeling, F Brioude, O Lokulo-Sodipe… - Nature Reviews …, 2017 - nature.com
Abstract This Consensus Statement summarizes recommendations for clinical diagnosis,
investigation and management of patients with Silver–Russell syndrome (SRS), an …

[HTML][HTML] International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia

R Savarirayan, P Ireland, M Irving… - Nature Reviews …, 2022 - nature.com
Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of
medical, functional and psychosocial challenges across the lifespan. The condition is …

Congenital hyperinsulinism

JB Arnoux, P de Lonlay, MJ Ribeiro, K Hussain… - Early human …, 2010 - Elsevier
Congenital hyperinsulinism (CHI or HI) is a condition leading to recurrent hypoglycemia due
to an inappropriate insulin secretion by the pancreatic islet β cells. HI has two main …

Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets

F Francis, TM Strom, S Hennig, A Böddrich… - Genome …, 1997 - genome.cshlp.org
X-linked dominant hypophosphatemic rickets (HYP) is the most common form of hereditary
rickets. Recently we have cloned the PEX gene and shown it to be mutated and deleted in …

Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial

R Savarirayan, L Tofts, M Irving, W Wilcox, CA Bacino… - The Lancet, 2020 - thelancet.com
Background There are no effective therapies for achondroplasia. An open-label study
suggested that vosoritide administration might increase growth velocity in children with …

[HTML][HTML] Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study

R Savarirayan, L Tofts, M Irving, WR Wilcox… - Genetics in …, 2021 - nature.com
Purpose Achondroplasia is caused by pathogenic variants in the fibroblast growth factor
receptor 3 gene that lead to impaired endochondral ossification. Vosoritide, an analog of C …

[HTML][HTML] Lifetime impact of achondroplasia: current evidence and perspectives on the natural history

J Hoover-Fong, MS Cheung, V Fano, L Hagenas… - Bone, 2021 - Elsevier
Achondroplasia, the most common form of disproportionate short stature, is caused by a
variant in the fibroblast growth factor receptor 3 (FGFR3) gene. Advances in drug treatment …

[HTML][HTML] Serum MEPE-ASARM-peptides are elevated in X-linked rickets (HYP): implications for phosphaturia and rickets

D Bresler, J Bruder, K Mohnike… - Journal of …, 2004 - joe.bioscientifica.com
MEPE (Matrix Extracellular PhosphoglycoprotEin) expression is markedly elevated in X-
linked-hypophosphatemic-rickets (HYP) and tumor-induced osteomalacia (TIO). In normal …

Evaluation of [18F]Fluoro-l-DOPA Positron Emission Tomography-Computed Tomography for Surgery in Focal Congenital Hyperinsulinism

W Barthlen, O Blankenstein, H Mau… - The Journal of …, 2008 - academic.oup.com
Context: In congenital hyperinsulinism (CHI), the identification and precise localization of a
focal lesion is essential for successful surgery. Objective: Our objective was to evaluate the …

Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation

A Čechová, R Altassan, D Borgel… - Journal of inherited …, 2020 - Wiley Online Library
Mannose phosphate isomerase‐congenital disorder of glycosylation (MPI‐CDG) deficiency
is a rare subtype of congenital disorders of protein N‐glycosylation. It is characterised by …