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Hormone Research in Paediatrics|October 27, 2017
Sodium Chloride Supplementation Is Not Routinely Performed in the Majority of German and Austrian Infants with Classic Salt-Wasting Congenital Adrenal Hyperplasia and Has No Effect on Linear Growth and Hydrocortisone or Fludrocortisone DoseWalter Bonfig, Friedhelm Roehl, Stefan Riedl, et al.
Annals of Pediatric Endocrinology & Metabolism|May 11, 2021
Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutationChristiaan F Mooij, Carline E Tacke, Mirjam E van Albada, et al.
Advances in Therapy|February 5, 2025
Considerations for Anthropometry Specific to People with Disproportionate Short StatureJulie Hoover-Fong, Oliver Semler, Bobbie Barron, et al.
Acta Paediatrica (Oslo, Norway : 1992)|November 22, 2005
Growth hormone treatment in 35 prepubertal children with achondroplasia: a five-year dose-response trialNiels Thomas Hertel, Ole Eklöf, Sten Ivarsson, et al.
Pediatrics|November 2, 2017
Growth and Final Height Among Children With PhenylketonuriaAlena G Thiele, Ruth Gausche, Cornelia Lindenberg, et al.
Endocrine Connections|April 28, 2021
Hydrocortisone dosing in children with classic congenital adrenal hyperplasia: results of the German/Austrian registryHeike Hoyer-Kuhn, Angela Huebner, Anette Richter-Unruh, et al.
European Journal of Medical Genetics|March 30, 2022
Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutationsClaudia Schuart, Andrea Bassi, Friedrich Kapp, et al.
Orphanet Journal of Rare Diseases|June 13, 2022
Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi studyRavi Savarirayan, Wagner Baratela, Thomas Butt, et al.
Orphanet Journal of Rare Diseases|August 1, 2021
The first European consensus on principles of management for achondroplasiaValerie Cormier-Daire, Moeenaldeen AlSayed, Tawfeg Ben-Omran, et al.
Orphanet Journal of Rare Diseases|July 27, 2022
Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendationsValerie Cormier-Daire, Moeenaldeen AlSayed, Inês Alves, et al.
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