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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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European achondroplasia forum - are current outcome measures for achondroplasia still fit for purpose in the era of medical management?
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Real world effectiveness of vosoritide in 165 children with achondroplasia - data from a multicenter European registry
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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 data analysis of contemporary therapy and its association to anthropometric outcomes in 1500 patients with congenital adrenal hyperplasia (CAH)
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Syndromic forms of congenital hyperinsulinism
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Congenital hyperinsulinism, neonatal diabetes and the risk of malignancies - an international collaborative study ; preliminary communication
In: Diabetic medicine - Oxford [u.a.]: Wiley-Blackwell, 1984, Bd. 32.2015, 5, S. 701-703

Therapy monitoring in congenital adrenal hyperplasia by dried blood samples
In: The journal of pediatric endocrinology and metabolism - Berlin [u.a.]: de Gruyter, Bd. 28 (2015), 7/8, S. 867-871

Long-term surveillance of children with congenital hypothyroidism - data from the German registry for congenital hypothyroidism (AQUAPE Hypo Dok) : Daten aus dem Deutschen Register für Konnatale Hypothyreose (AQUAPE Hypo Dok)
In: Klinische Pädiatrie - Stuttgart: Thieme, Bd. 227 (2015), 4, S. 199-205

LC-MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism
In: Analytical and bioanalytical chemistry - Berlin: Springer, Bd. 407 (2015), 17, S. 5227-5233

Multiple "Mongolenflecke" als kutane Manifestation einer Typ-1 GM1-Gangliosidose mit Nachweis einer homozygoten Mutation des Exon 2 des GLB1-Gens
In: 20. Jahrestagung: 7. März 2015 in Halle (Saale) ; [Programm]// Gesellschaft für Dermatologie und Venerologie Sachsen-Anhalt, 2015, insges. 3 S.

Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism
In: Hormone research in paediatrics: from developmental endocrinology to clinical research - Basel: Karger - from developmental endocrinology to clinical research, Bd. 81 (2014), 3, S. 156-168

Clinical and Genetic Evaluation of Patients with KATP Channel Mutations from the German Registry for Congenital Hyperinsulinism
In: Hormone Research in Paediatrics, 2014, S. , ISSN 1663-2826, 10.1159/000356905

Die Bedeutung des Neugeborenen-Screenings anhand von Fallbeispielen
In: Hebamme - Stuttgart : Thieme, Bd. 27 (2014), Heft 1, S. 44-47

Universelles Neugeborenen-Hörscreening - Definition einheitlicher Parameter durch den Verband Deutscher Hörscreening-Zentralen (VDHZ) als Voraussetzung für eine flächendeckende Evaluation mit validen Ergebnissen
In: HNO - Berlin: Springer, 1996, Bd. 62.2014, 3, S. 165-170

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
In: 2014,

Klinisches Spektrum von Achondroplasie und Hypochondroplasie
In: Achondroplasie und Hypochondroplasie. - Berlin : ABW Wissenschaftsverlagsgesellschaft, S. 29-34, 2013

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

Sonometrie bei Achondroplasie
In: Achondroplasie und Hypochondroplasie - Diagnostik und Betreuung spezifischer Kleinwuchsformen: Diagnostik und Betreuung spezifischer Kleinwuchsformen - Berlin: ABW, Wissenschaftsverlag, 2013 . - 2013, S. 41-50

Handlungsempfehlung nach der Leitlinie Pubertas praecox
In: Monatsschrift Kinderheilkunde: Zeitschrift für Kinder- und Jugendmedizin ; Organ der Deutschen Gesellschaft für Kinderheilkunde ; Organ der Österreichischen Gesellschaft für Kinderheilkunde - Heidelberg: Springer Medizin-Verl., Bd. 161 (2013), 2, S. 153-154

Neugeborenenscreening auf angeborene Stoffwechsel- und Hormonstörungen in Deutschland
In: Pädiatrische Praxis: Zeitschrift für Kinder- und Jugendmedizin in Klinik und Praxis - Kulmbach: Mediengruppe Oberfranken Fachverlage GmbH & Co. KG, Bd. 80 (2013), 4, S. 551-558

Achondroplasie und Hypochondroplasie - Diagnostik und Betreuung spezifischer Kleinwuchsformen
In: Berlin: ABW, Wissenschaftsverlag, 2013, 211 Seiten, ISBN: 978-3-940615-41-1 [Literaturangaben]

Insulinome
In: Solide Tumoren im Kindesalter: Grundlagen - Diagnostik - Therapie ; mit 72 Tabellen ; inkl. DVD mit Tumoroperationen / hrsg. von Jörg Fuchs. Unter Mitarb. von Winfried Barthlen ...: Grundlagen - Diagnostik - Therapie ; mit 72 Tabellen ; inkl. DVD mit Tumoroperationen - Stuttgart: Schattauer, 2012 . - 2012, S. 283-286

Kongenitaler Hyperinsulinismus
In: Solide Tumoren im Kindesalter: Grundlagen - Diagnostik - Therapie ; mit 72 Tabellen ; inkl. DVD mit Tumoroperationen / hrsg. von Jörg Fuchs. Unter Mitarb. von Winfried Barthlen ...: Grundlagen - Diagnostik - Therapie ; mit 72 Tabellen ; inkl. DVD mit Tumoroperationen - Stuttgart: Schattauer, 2012 . - 2012, S. 288-293

Pädiatrie
In: PET/CT-Atlas , 2. Aufl. - Berlin : Springer ; Mohnike, Wolfgang *1949-* . - 2011, S. 845-892

Glucose metabolism and neurological outcome in congenital hyperinsulinism
In: Seminars in pediatric surgery - New York, NY: Elsevier, 1992, Bd. 20.2011, 1, S. 45-49

Techniques in pediatric surgery: congenital hyperinsulinism
In: Hormone research in paediatrics - Basel : Karger, Bd. 75 (2011), Heft 4, S. 304-310

Visualization of the focus in congenital hyperinsulinism by intraoperative sonography
In: Seminars in pediatric surgery - New York, NY : Elsevier, Bd. 20 (2011), Heft 1, S. 28-31

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
In: Ultraschall in der Medizin - Stuttgart : Thieme, Bd. 32 (2011), Heft 1, S. 74-80

Endokrinologische Störungen
In: Neonatologie - Stuttgart: Georg Thieme Verlag . - 2010, S. 403-410

Angeborene Knochenerkrankungen
In: Neonatologie - Stuttgart: Georg Thieme Verlag . - 2010, S. 582-583

Techniques in pediatric surgery: congenital hyperinsulinism
In: Hormone research in paediatrics - Basel : Karger, Bd. 74 (2010), Heft 6, S. 438-443

Congenital hyperinsulinism
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Planungsunterstützung für Pankreasoperationen bei Hyperinsulinismus von Kindern
In: Bildverarbeitung für die Medizin 2008: Algorithmen - Systeme - Anwendungen ; Proceedings des Workshops vom 6. bis 8. April 2008 in Berlin / Thomas Tolxdorff; Jürgen Braun; Thomas M. Deserno; Heinz Handels; Alexander Horsch; Hans-Peter Meinzer (Hrsg.): Algorithmen - Systeme - Anwendungen ; Proceedings des Workshops vom 6. bis 8. April 2008 in Berlin - Berlin: Springer; Tolxdorff, Thomas . - 2008, S. 232-236Kongress: Workshop Bildverarbeitung für die Medizin (Berlin : 2008.04.06-08)

Cholesterin - zwischen Mangel und Überfluss - 20. Jahrestagung 2006 der Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS), Fulda
In: Heilbronn: SPS Publ., 2008 - (APS-Edition)

Evaluation of (18F)Fluoro-L-DOPA positron emission tomography-computed tomography for surgery in focal congenital hyperinsulinism
In: The journal of clinical endocrinology & metabolism - Chevy Chase, Md. : Endocrine Society, Bd. 93 (2008), Heft 3, S. 869-875

Congenital hyperinsulinism: [18F]DOPA PET/CT scan of a focal lesion in the head of the pancreas
In: Archives of disease in childhood: the journal of the Royal College of Paediatrics and Child Health: the journal of the Royal College of Paediatrics and Child Health - London: BMJ Publ. Group, Bd. 93.2008, 2, S. F166

Long-term non-surgical therapy of severe persistent congenital hyperinsulinism with glucagon
In: Hormone research - Basel : Karger, Bd. 70 (2008), Heft 1, S. 59-64

Metabolische Krisen im Kindesalter
In: Intensivmedizin up2date - Stuttgart : Thieme, Bd. 4 (2008), Heft 3, S. 229-244

Diastrophe Dysplasie und Spondyloepiphysäre Dysplasie - Diagnostik, Betreuung und Langzeitkonsequenzen
In: Berlin: ABW, Wissenschaftsverlag, 2007, XVII, 195 Seiten, Illustrationen, Diagramme, 21 cm

Diastrophe Dysplasie und Spondyloepiphysäre Dysplasie - Diagnostik, Betreuung und Langzeitkonsequenzen
In: Berlin: ABW, Wissenschaftsverlag, 2007, XVII, 195 Seiten, ISBN: 978-3-936072-48-8 [Literaturangaben]

Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC
In: European journal of pediatrics - Berlin : Springer, Bd. 166 (2007), Heft 7, S. 743-745

Congenital cataract, ataxia, external ophthalmoplegia and dysphagia in two siblings - a Marinesco-Sjögren-Like syndrome
In: Neuropediatrics: journal of pediatric, neurobiology and neurogenetics ; official journal of the Society for Neuropediatrics - Stuttgart [u.a.]: Thieme, Bd. 38 (2007), 2, S. 88-90

Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC
In: European journal of pediatrics: official organ of the Belgian Pediatric Association - Berlin: Springer, Bd. 166 (2007), 7, S. 743-745

Distribution of sex chromosomes in dysgenetic gonads of mixed type
In: Cytogenetic and genome research - Basel: Karger, Bd. 116 (2007), 1/2, S. 146-151

Congenital cataract, ataxia, external ophthalmoplegia and dysphagia in two siblings - a Marinesco-Sjögren-Like syndrome
In: Neuropediatrics - Stuttgart [u.a.] : Thieme, Bd. 38 (2007), Heft 2, S. 88-90

Mikrosonographie der Schilddrüse im Kindesalter
In: München: Marseille, 2007, 64 S, Ill.

Nesidioblastose (angeborener Hyperinsulinismus)
In: PET/CT-Atlas: ein interdisziplinärer Leitfaden der onkologischen PET/CT-Diagnostik ; mit 15 Tabellen / Wolfgang Mohnike; Gustav Hör. Unter Mitarb. von Thomas Beyer ... - Berlin: Springer . - 2006, S. 382-383

Proposal for a standardized protocol for 18F-DOPA-PET (PET/CT) in congenital hyperinsulinism
In: Hormone research: from developmental endocrinology to clinical research ; official organ of the European Society for Paediatric Endocrinology - Basel: Karger, Bd. 66 (2006), Heft 1, S. 40-42

Proposal for a standardized protocol for 18F-DOPA-PET (PET/CT) in congenital hyperinsulinism
In: Hormone research - Basel : Karger, Bd. 66 (2006), Heft 1, S. 40-42

Das Klinefelter-Syndrom
In: Pädiatrische Praxis: Zeitschrift für Kinder- und Jugendmedizin in Klinik und Praxis - Kulmbach: Mediengruppe Oberfranken Fachverlage GmbH & Co. KG, Bd. 69 (2006), Heft 3, S. 495-501

Rationelle Diagnostik bei kindlichen Hypoglykämien
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CranioNet - eine interdisziplinäre Strategie für das Kraniopharyngeom - CranioNet - an interdisciplinary strategy for craniopharyngioma
In: Deutsche medizinische Wochenschrift - Stuttgart : Thieme, Bd. 131 (2006), Heft 15, S. 821-824

Rationelle Diagnostik bei kindlichen Hypoglykämien
In: Kinder- und Jugendmedizin - Stuttgart : Georg Thieme Verlag KG, Bd. 6 (2006), Heft 4, S. 215-222

Mutation typing in patients with medium chain AcylCoA dehydrogenase deficiency (MCADD) and PCR based mutation screening in SIDS victims
In: Progress in forensic genetics 11: proceedings of the 21st international ISFG congress held in Ponta Delgada, The Azores, Portugal between 13 and 16 September 2005 / ed.: António Amorim, Francisco Corte-Real, Niels Morling - Amsterdam [u.a.]: Elsevier, 2006 . - 2006, S. 682-684

Zur Geschichte des Phosphatdiabetes.
In:

Grundzüge der Therapie im Kindesalter.
In:

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

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:

Wachstum und Entwicklungsstörungen.
In:

Nebenniere.
In:

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

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

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

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