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Quality of life of children with achondroplasia and their parents - a German cross-sectional study.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Characterization of diabetes following pancreatic surgery in patients with congenital hyperinsulinism.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Editorial: The problem of childhood hypoglycemia, volume II.
- Published in:
- Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1412976
- By:
- Publication type:
- Article
European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.
- Published in:
- Advances in Therapy, 2024, v. 41, n. 7, p. 2545, doi. 10.1007/s12325-024-02880-3
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- Publication type:
- Article
Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.
- Published in:
- Advances in Therapy, 2024, v. 41, n. 1, p. 198, doi. 10.1007/s12325-023-02705-9
- By:
- Publication type:
- Article
Parents' Experience of Administering Vosoritide: A Daily Injectable for Children with Achondroplasia.
- Published in:
- Advances in Therapy, 2023, v. 40, n. 5, p. 2457, doi. 10.1007/s12325-023-02496-z
- By:
- Publication type:
- Article
Semen quality and testicular adrenal rest tumour development in 46, XY congenital adrenal hyperplasia: the importance of optimal hormonal replacement.
- Published in:
- European Journal of Endocrinology, 2021, v. 184, n. 4, p. 487, doi. 10.1530/EJE-20-1154
- By:
- Publication type:
- Article
Cross-cultural selection and validation of instruments to assess patient-reported outcomes in children and adolescents with achondroplasia.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Multiple Polycyclic Brownish to Reddish Macules on the Skin in an Infant.
- Published in:
- 2015
- By:
- Publication type:
- journal article
International Guidelines for the Diagnosis and Management of Hyperinsulinism.
- Published in:
- Hormone Research in Paediatrics, 2024, v. 97, n. 3, p. 279, doi. 10.1159/000531766
- By:
- Publication type:
- Article
A Multicenter Experience with Long-Acting Somatostatin Analogues in Patients with Congenital Hyperinsulinism.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 89, n. 2, p. 82, doi. 10.1159/000485184
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- Publication type:
- Article
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 Dose.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 89, n. 1, p. 7, doi. 10.1159/000481775
- By:
- Publication type:
- Article
Formal Neurocognitive Testing in 60 Patients with Congenital Hyperinsulinism.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 89, n. 1, p. 1, doi. 10.1159/000481774
- By:
- Publication type:
- Article
Clinical and Genetic Evaluation of Patients with K<sub>ATP</sub> Channel Mutations from the German Registry for Congenital Hyperinsulinism.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 81, n. 3, p. 156, doi. 10.1159/000356905
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- Publication type:
- Article
Techniques in Pediatric Surgery: Congenital Hyperinsulinism.
- Published in:
- Hormone Research in Paediatrics, 2011, v. 75, n. 4, p. 304, doi. 10.1159/000323532
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- Publication type:
- Article
Techniques in Pediatric Surgery: Congenital Hyperinsulinism.
- Published in:
- Hormone Research in Paediatrics, 2010, v. 74, n. 6, p. 438, doi. 10.1159/000321902
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- Publication type:
- Article
Case report: contradictory genetics and imaging in focal congenital hyperinsulinism reinforces the need for pancreatic biopsy.
- Published in:
- International Journal of Pediatric Endocrinology, 2020, v. 2020, n. 1, p. N.PAG, doi. 10.1186/s13633-020-00086-2
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- Publication type:
- Article
Therapy monitoring in congenital adrenal hyperplasia by dried blood samples.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 7/8, p. 867, doi. 10.1515/jpem-2014-0303
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- Publication type:
- Article
Blood Pressure in a Large Cohort of Children and Adolescents With Classic Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency.
- Published in:
- American Journal of Hypertension, 2016, v. 29, n. 2, p. 266, doi. 10.1093/ajh/hpv087
- By:
- Publication type:
- Article
Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model.
- Published in:
- Clinical Pharmacokinetics, 2024, v. 63, n. 5, p. 707, doi. 10.1007/s40262-024-01371-6
- By:
- Publication type:
- Article
Pharmacokinetics and Exposure–Response of Vosoritide in Children with Achondroplasia.
- Published in:
- Clinical Pharmacokinetics, 2022, v. 61, n. 2, p. 263, doi. 10.1007/s40262-021-01059-1
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- Publication type:
- Article
Exceedingly Rare.
- Published in:
- Deutsches Ärzteblatt International, 2016, v. 113, n. 27/28, p. 487
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- Publication type:
- Article
European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02795-2
- By:
- Publication type:
- Article
Real-world evidence in achondroplasia: considerations for a standardized data set.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02755-w
- By:
- Publication type:
- Article
Evaluation of [<sup>18</sup>F]Fluoro-L-DOPA Positron Emission Tomography-Computed Tomography for Surgery in Focal Congenital Hyperinsulinism.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 3, p. 869, doi. 10.1210/jc.2007-2036
- By:
- Publication type:
- Article
Insulin-Like Growth Factor Binding Protein-2 at Diagnosis of Childhood Acute Lymphoblastic Leukemia and the Prediction of Relapse Risk.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 5, p. 3022, doi. 10.1210/jc.2004-0461
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- Publication type:
- Article
Editorial: The problem of childhood hypoglycaemia.
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1211933
- By:
- Publication type:
- Article
Syndromic forms of congenital hyperinsulinism.
- Published in:
- Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2023.1013874
- By:
- Publication type:
- Article
Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.1015244
- By:
- Publication type:
- Article
Somatostatin receptors in congenital hyperinsulinism: Biology to bedside.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 01, doi. 10.3389/fendo.2022.921357
- By:
- Publication type:
- Article
Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 671, doi. 10.1002/jimd.12241
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- Publication type:
- Article
Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Medical care of obese children and adolescents. APV: a standardised multicentre documentation derived to study initial presentation and cardiovascular risk factors in patients transferred to specialised treatment institutions.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Glucagon therapy as a possible cause of erythema necrolyticum migrans in two neonates with persistent hyperinsulinaemic hypoglycaemia.
- Published in:
- European Journal of Pediatrics, 2002, v. 161, n. 11, p. 600, doi. 10.1007/s00431-002-1022-9
- By:
- Publication type:
- Article
Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature.
- Published in:
- European Journal of Pediatrics, 2001, v. 160, n. 9, p. 561
- By:
- Publication type:
- Article
Growth hormone treatment in 35 prepubertal children with achondroplasia: a five-year dose-response trial.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias.
- Published in:
- Pediatric Radiology, 2024, v. 54, n. 1, p. 82, doi. 10.1007/s00247-023-05789-1
- By:
- Publication type:
- Article
Correlation of PET-MRI, Pathology, LOH, and Surgical Success in a Case of CHI With Atypical Large Pancreatic Focus.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 6, p. 1, doi. 10.1210/jendso/bvac056
- By:
- Publication type:
- Article
Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Growth reference charts for children with hypochondroplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 243, doi. 10.1002/ajmg.a.63431
- By:
- Publication type:
- Article
Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1819, doi. 10.1002/ajmg.a.40356
- By:
- Publication type:
- Article
Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1723, doi. 10.1002/ajmg.a.38853
- By:
- Publication type:
- Article
How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Experiences of children and adolescents living with achondroplasia and their caregivers.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1891
- By:
- Publication type:
- Article
Optimising care and follow-up of adults with achondroplasia.
- Published in:
- Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02479-3
- By:
- Publication type:
- Article
Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.
- Published in:
- 2022
- By:
- Publication type:
- journal article
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 study.
- Published in:
- 2022
- By:
- Publication type:
- journal article
The first European consensus on principles of management for achondroplasia.
- Published in:
- 2021
- By:
- Publication type:
- journal article