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Editorial: The problem of childhood hypoglycaemia

Frontiers in endocrinology (Lausanne), 2023-05, Vol.14, p.1211933-1211933

2023

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Syndromic forms of congenital hyperinsulinism

Frontiers in endocrinology (Lausanne), 2023-03, Vol.14, p.1013874-1013874

2023

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Quality of life of children with achondroplasia and their parents - a German cross-sectional study

Orphanet journal of rare diseases, 2019-08, Vol.14 (1), p.194-194, Article 194

2019

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Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history

Bone (New York, N.Y.), 2021-05, Vol.146, p.115872-115872, Article 115872

2021

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Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort

American journal of medical genetics. Part A, 2018-08, Vol.176 (8), p.1723-1734

2018

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The first European consensus on principles of management for achondroplasia

Orphanet journal of rare diseases, 2021-07, Vol.16 (1), p.1-333, Article 333

2021

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Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length

American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.1819-1829

2018

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How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system

Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.198-198, Article 198

2021

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Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

Orphanet journal of rare diseases, 2023-03, Vol.18 (1), p.56-56, Article 56

2023

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Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

Orphanet journal of rare diseases, 2022-07, Vol.17 (1), p.1-293, Article 293

2022

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Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism

Frontiers in endocrinology (Lausanne), 2022-10, Vol.13, p.1015244-1015244

2022

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Real-world evidence in achondroplasia: considerations for a standardized data set

Orphanet journal of rare diseases, 2023-06, Vol.18 (1), p.166-166, Article 166

2023

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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

Orphanet journal of rare diseases, 2022-06, Vol.17 (1), p.224-224, Article 224

2022

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European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.219-219

2023

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Optimising care and follow-up of adults with achondroplasia

Orphanet journal of rare diseases, 2022-08, Vol.17 (1), p.1-318, Article 318

2022

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Somatostatin receptors in congenital hyperinsulinism: Biology to bedside

Frontiers in endocrinology (Lausanne), 2022-09, Vol.13, p.921357-921357

2022

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Characterization of diabetes following pancreatic surgery in patients with congenital hyperinsulinism

Orphanet journal of rare diseases, 2018-12, Vol.13 (1), p.230-230, Article 230

2018

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

The journal of clinical endocrinology and metabolism, 2008-03, Vol.93 (3), p.869-875

2008

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Techniques in Pediatric Surgery: Congenital Hyperinsulinism

Hormone research in paediatrics, 2011-01, Vol.75 (4), p.304-310

2011

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Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation

Annals of Pediatric Endocrinology & Metabolism, 2021, 26(4), , pp.278-283

2021

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Experiences of children and adolescents living with achondroplasia and their caregivers

Molecular genetics & genomic medicine, 2022-04, Vol.10 (4), p.e1891-n/a

2022

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Aktualisierte Handlungsempfehlung nach der Leitlinie Pubertas praecox

Monatsschrift Kinderheilkunde, 2021-12, Vol.169 (12), p.1171-1173

2021

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Hydrocortisone dosing in children with classic congenital adrenal hyperplasia: results of the German/Austrian registry

Endocrine Connections, 2021-05, Vol.10 (5), p.561-569

2021

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Editorial: The problem of childhood hypoglycaemia

Syndromic forms of congenital hyperinsulinism

Quality of life of children with achondroplasia and their parents - a German cross-sectional study

Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history

Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort

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

The first European consensus on principles of management for achondroplasia

Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length

How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system

Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism

Real-world evidence in achondroplasia: considerations for a standardized data set

Treatment of congenital adrenal hyperplasia in children aged 0-3 years: a retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure

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

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

Optimising care and follow-up of adults with achondroplasia

Somatostatin receptors in congenital hyperinsulinism: Biology to bedside

Characterization of diabetes following pancreatic surgery in patients with congenital hyperinsulinism

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

Techniques in Pediatric Surgery: Congenital Hyperinsulinism

Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation

Experiences of children and adolescents living with achondroplasia and their caregivers

Aktualisierte Handlungsempfehlung nach der Leitlinie Pubertas praecox

Hydrocortisone dosing in children with classic congenital adrenal hyperplasia: results of the German/Austrian registry

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