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Bone age in achondroplasia - comparative study using visual and AI-based technologies
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Non-coding variants in HK1 and hyperinsulinism - genotype-phenotype associations
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Real world data analysis of contemporary therapy and its association to anthropometric outcomes in 1500 patients with congenital adrenal hyperplasia (CAH)
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Growth-promoting effects of vosoritide in children with achondroplasia aged ≥ 10 years at treatment initiation - results from a phase 3 extension study
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Real world effectiveness of vosoritide in 165 children with achondroplasia - data from a multicenter European registry
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European achondroplasia forum - are current outcome measures for achondroplasia still fit for purpose in the era of medical management?
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Safety and efficacy of efpegerglucagon in patients with congenital hyperinsulinism - interim results from a phase 2 study
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Expansion of the CrescNet registry achondroplasia module - real-world demographic data and outcomes after up to 2 years of vosoritide treatment
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Chirurgie seltener Erkrankungen
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Growth reference charts for children with hypochondroplasia
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ERN BOND - the key European network leveraging diagnosis, research, and treatment for rare bone conditions
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Editorial - the problem of childhood hypoglycemia, volume II
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Development of a weight-band dosing approach for vosoritide in children with achondroplasia using a population pharmacokinetic model
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Kongenitaler Hyperinsulinismus - Update 2024 - Congenital hyperinsulinism - update 2024
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Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life
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Anatomical characteristics of cervicomedullary compression on MRI scans in children with achondroplasia
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European achondroplasia forum practical considerations for following adults with achondroplasia
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Vosoritide therapy in children with achondroplasia - early experience and practical considerations for clinical practice
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Deeplasia - deep learning for bone age assessment validated on skeletal dysplasias
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Vosoritide therapy in patients with achondroplasia - early experience and practical considerations for clinical practice
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Multidisciplinary approach in achondroplasia - real world experience after drug approval of vosoritide
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The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) - collecting core data elements and clinician and patient-reported outcomes
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Impact of newborn screening for Congenital Adrenal Hyperplasia (CAH) on adult height - data from the CAH Registry of the German Society for Pediatric and Adolescent Endocrinology and Diabetology (DGPAED)
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Dasiglucagon safety in paediatric participants with CHI
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Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 3.5 years - update from Phase 3 extension study
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Real-world evidence in achondroplasia - considerations for a standardized data set
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European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis
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Syndromic forms of congenital hyperinsulinism
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Editorial - the problem of childhood hypoglycaemia
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Parents' experience of administering vosoritide - a daily injectable for children with achondroplasia
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Lifetime impact of achondroplasia study in Europe (LIAISE) - findings from a multinational observational study
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Vosoritide for children with achondroplasia - growth velocity and pubertal milestones
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An international study of the association between local health care resources and acute adrenal insufficiency events in children with congenital adrenal hyperplasia
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An ongoing phase 2 study of HM15136, a novel long-acting glucagon analogue, in subjects with congenital hyperinsulinism (ACHIEVE)
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Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations
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Methodology for generating standardized datasets with characteristic diagnostic parameters of rare diseases in form of HPO-terms
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Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism
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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
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Aktualisierte Handlungsempfehlung nach der Leitlinie Pubertas praecox
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Semen quality and testicular adrenal rest tumour development in 46,XY congenital adrenal hyperplasia - the importance of optimal hormonal replacement
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[18]F-DOPA-PET/MRI or /CT in children with congenital hyperinsulinism
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Multiple polycyclic brownish to reddish macules on the skin in an infant
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LC-MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism
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Congenital hyperinsulinism, neonatal diabetes and the risk of malignancies - an international collaborative study ; preliminary communication
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Therapy monitoring in congenital adrenal hyperplasia by dried blood samples
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Multiple "Mongolenflecke" als kutane Manifestation einer Typ-1 GM1-Gangliosidose mit Nachweis einer homozygoten Mutation des Exon 2 des GLB1-Gens
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Die Bedeutung des Neugeborenen-Screenings anhand von Fallbeispielen
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Universelles Neugeborenen-Hörscreening - Definition einheitlicher Parameter durch den Verband Deutscher Hörscreening-Zentralen (VDHZ) als Voraussetzung für eine flächendeckende Evaluation mit validen Ergebnissen
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Clinical and Genetic Evaluation of Patients with KATP Channel Mutations from the German Registry for Congenital Hyperinsulinism
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Universal newborn hearing screening : Definition of uniform parameters by the Association of German Hearing Screening Centers as a requirement for nationwide evaluation with valid results
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Medikamentöse Therapieoptionen bei Achondroplasie und Hypochondroplasie
In: Achondroplasie und Hypochondroplasie - Diagnostik und Betreuung spezifischer Kleinwuchsformen: Diagnostik und Betreuung spezifischer Kleinwuchsformen - Berlin: ABW, Wissenschaftsverlag, 2013 . - 2013, S. 155-160

Klinisches Spektrum von Achondroplasie und Hypochondroplasie
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Sonometrie bei Achondroplasie
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Neugeborenenscreening auf angeborene Stoffwechsel- und Hormonstörungen in Deutschland
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Handlungsempfehlung nach der Leitlinie Pubertas praecox
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Achondroplasie und Hypochondroplasie - Diagnostik und Betreuung spezifischer Kleinwuchsformen
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Insulinome
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Kongenitaler Hyperinsulinismus
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Pädiatrie
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Techniques in pediatric surgery: congenital hyperinsulinism
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Glucose metabolism and neurological outcome in congenital hyperinsulinism
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Intraoperative Sonography: A Technique for Localizing Focal Forms of Congenital Hyperinsulinism in the Pancreas - Intraoperative Sonografie: eine Methode zur Lokalisation der fokalen Form des kongenitalen Hyperinsulinismus im Pankreas
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Angeborene Knochenerkrankungen
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Endokrinologische Störungen
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Planungsunterstützung für Pankreasoperationen bei Hyperinsulinismus von Kindern
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Cholesterin - zwischen Mangel und Überfluss - 20. Jahrestagung 2006 der Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS), Fulda
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Long-term non-surgical therapy of severe persistent congenital hyperinsulinism with glucagon
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Congenital hyperinsulinism: [18F]DOPA PET/CT scan of a focal lesion in the head of the pancreas
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Evaluation of (18F)Fluoro-L-DOPA positron emission tomography-computed tomography for surgery in focal congenital hyperinsulinism
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Metabolische Krisen im Kindesalter
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Diastrophe Dysplasie und Spondyloepiphysäre Dysplasie - Diagnostik, Betreuung und Langzeitkonsequenzen
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Diastrophe Dysplasie und Spondyloepiphysäre Dysplasie - Diagnostik, Betreuung und Langzeitkonsequenzen
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Distribution of sex chromosomes in dysgenetic gonads of mixed type
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Congenital cataract, ataxia, external ophthalmoplegia and dysphagia in two siblings - a Marinesco-Sjögren-Like syndrome
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Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC
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Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC
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Congenital cataract, ataxia, external ophthalmoplegia and dysphagia in two siblings - a Marinesco-Sjögren-Like syndrome
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Mikrosonographie der Schilddrüse im Kindesalter
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Nesidioblastose (angeborener Hyperinsulinismus)
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Proposal for a standardized protocol for 18F-DOPA-PET (PET/CT) in congenital hyperinsulinism
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Proposal for a standardized protocol for 18F-DOPA-PET (PET/CT) in congenital hyperinsulinism
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Rationelle Diagnostik bei kindlichen Hypoglykämien
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CranioNet - eine interdisziplinäre Strategie für das Kraniopharyngeom - CranioNet - an interdisciplinary strategy for craniopharyngioma
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Rationelle Diagnostik bei kindlichen Hypoglykämien
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Das Klinefelter-Syndrom
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Mutation typing in patients with medium chain AcylCoA dehydrogenase deficiency (MCADD) and PCR based mutation screening in SIDS victims
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Grundzüge der Therapie im Kindesalter.
In:

Zur Geschichte des Phosphatdiabetes.
In:

Novel and recurrent mutations in patients with androgen insensitivity syndromes.
In:

Insulin-like growth factor binding protein-2 at diagnosis of childhood acute lymphoblastic leukemia and the prediction of relapse risk.
In:

}... Growth hormone treatment in 35 prepubertal children with achondroplasia : a five-year dose- response trial.
In:

Proteus syndrome : successful therapy of severe migraine symptoms with low molecular weight heparin.
In:

Wachstum und Gewichtszunahme in den ersten Lebensjahren : Magdeburger Kohorte 1969-77.
In:

Vorgeburtliches Wachstum, Schwangerschaftsdauer, Gewicht und Länge bei Geburt.
In:

Serum MEPE-ASARM-peptides are elevated in X-linked rickets (HYP) : implications for phosphaturia and rickets.
In:

Tolerability of the Biken acellular pertussis vaccine in adults with or without previous vaccination against pertussis in childhood.
In:

The Magdeburg clinical studies' network for pediatric diseases.
In:

Wachstum und Entwicklungsstörungen.
In:

Nebenniere.
In:

Glucagon therapy as a possible cause of erythema necrolyticum migrans in two neonates with persistent hyperinsulinaemic hypoglycaemia.
In:

Expression of components of the IGF signalling system in childhood acute lymphoblastic leukaemia.
In:

Manifestation eines Cushing-Syndroms und osteoporotischer Frakturen in der Schwangerschaft einer Patientin mit Carney-Komplex.
In: