Vosoritide therapy in children with achondroplasia - early experience and practical considerations for clinical practice
In: Advances in therapy - Tarporley : Springer Healthcare Communications, Bd. 41 (2024), Heft 1, S. 198-214

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
In: Genetics in medicine - Amsterdam : Elsevier, Bd. 26 (2024), Heft 12, Artikel 101274, insges. 7 S.

Anatomical characteristics of cervicomedullary compression on MRI scans in children with achondroplasia
In: Journal of imaging - Basel : MDPI, Bd. 10 (2024), Heft 11, Artikel 291, insges. 12 S.

European achondroplasia forum practical considerations for following adults with achondroplasia
In: Advances in therapy - Tarporley : Springer Healthcare Communications, Bd. 41 (2024), Heft 7, S. 2545-2558

International guidelines for the diagnosis and management of hyperinsulinism
In: Hormone research in paediatrics - Basel : Karger, Bd. 97 (2024), Heft 3, S. 279-298

Development of a weight-band dosing approach for vosoritide in children with achondroplasia using a population pharmacokinetic model
In: Clinical pharmacokinetics - Berlin [u.a.] : Springer, Bd. 63 (2024), Heft 5, S. 707-719

Editorial - the problem of childhood hypoglycemia, volume II
In: Frontiers in endocrinology - Lausanne : Frontiers Research Foundation, Bd. 15 (2024), Artikel 1412976, insges. 3 S.

ERN BOND - the key European network leveraging diagnosis, research, and treatment for rare bone conditions
In: European journal of medical genetics - New York, NY [u.a.] : Elsevier, Bd. 68 (2024), Artikel 104916, insges. 8 S.

Growth reference charts for children with hypochondroplasia
In: American journal of medical genetics - New York, NY : Wiley-Liss, Bd. 194 (2024), Heft 2, S. 243-252

Deeplasia - deep learning for bone age assessment validated on skeletal dysplasias
In: Pediatric radiology - Berlin : Springer, Bd. 54 (2024), Heft 1, S. 82-95

Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 3.5 years - update from Phase 3 extension study
In: Hormone research in paediatrics - Basel : Karger, Bd. 96 (2023), Heft suppl 3, S. 149-151, Artikel 6229

Dasiglucagon safety in paediatric participants with CHI
In: Hormone research in paediatrics - Basel : Karger, Bd. 96 (2023), Heft suppl 4, S. 59-60, Artikel FC10.1

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)
In: Hormone research in paediatrics - Basel : Karger, Bd. 96 (2023), Heft suppl 4, S. 151, Artikel P1-401

The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) - collecting core data elements and clinician and patient-reported outcomes
In: Hormone research in paediatrics - Basel : Karger, Bd. 96 (2023), Heft suppl 4, S. 171-172, Artikel P1-411

Multidisciplinary approach in achondroplasia - real world experience after drug approval of vosoritide
In: Hormone research in paediatrics - Basel : Karger, Bd. 96 (2023), Heft suppl 4, S. 173, Artikel P1-414

Vosoritide therapy in patients with achondroplasia - early experience and practical considerations for clinical practice
In: Hormone research in paediatrics - Basel : Karger, Bd. 96 (2023), Heft suppl 3, S. 153-154, Artikel 6240

Syndromic forms of congenital hyperinsulinism
In: Frontiers in endocrinology - Lausanne : Frontiers Research Foundation, Bd. 14 (2023), Artikel 1013874, insges. 19 S.

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis
In: Orphanet journal of rare diseases - London : BioMed Central, Bd. 18 (2023), S. 1-8, Artikel 219, insges. 8 S.

Real-world evidence in achondroplasia - considerations for a standardized data set
In: Orphanet journal of rare diseases - London : BioMed Central, Bd. 18 (2023), Artikel 166, insges. 9 S.

Editorial - the problem of childhood hypoglycaemia
In: Frontiers in endocrinology - Lausanne : Frontiers Research Foundation, Bd. 14 (2023), Artikel 1211933, insges. 3 S.

Parents' experience of administering vosoritide - a daily injectable for children with achondroplasia
In: Advances in therapy - Tarporley : Springer Healthcare Communications, Bd. 40 (2023), Heft 5, S. 2457-2470

Lifetime impact of achondroplasia study in Europe (LIAISE) - findings from a multinational observational study
In: Orphanet journal of rare diseases - London : BioMed Central, Bd. 18 (2023), Artikel 56, insges. 19 S.

An ongoing phase 2 study of HM15136, a novel long-acting glucagon analogue, in subjects with congenital hyperinsulinism (ACHIEVE)
In: Hormone research in paediatrics - Basel: Karger, 2010, Bd. 95 (2022), Suppl. 1, S. 100-101

The European registries for rare bone and mineral conditions - registering new cases of paediatric rare bone and mineral conditions using an electronic reporting tool
In: Hormone research in paediatrics - Basel: Karger, 2010, Bd. 95 (2022), Suppl. 2, S. 68-69

Vosoritide for children with achondroplasia - growth velocity and pubertal milestones
In: Genetics in medicine - Amsterdam : Elsevier, Bd. 24 (2022), Heft 3, Supplement, S. S352-S353, Artikel OP021

An international study of the association between local health care resources and acute adrenal insufficiency events in children with congenital adrenal hyperplasia
In: Hormone research in paediatrics - Basel: Karger, 2010, Bd. 95 (2022), Suppl. 2, S. 401-402

Historie der X-chromosomalen Hypophosphatämie (XLH)
In: X-chromosomale Hypophosphatämie - Phosphatdiabetes - XLH/ Schnabel - Bremen: UNI-MED; Schnabel, Dirk . - 2022, S. 14-17

Growth parameters in children with achondroplasia - a 7-year, prospective, multinational, observational study
In: Genetics in medicine - Amsterdam : Elsevier, Bd. 24 (2022), Heft 12, S. 2444-2452

Methodology for generating standardized datasets with characteristic diagnostic parameters of rare diseases in form of HPO-terms
In: Diagnostic Pathology - Los Angeles, CA : Omics international, Bd. 7 (2022), Heft S11, Artikel 1000002, insges. 6 S.

Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism
In: Frontiers in endocrinology - Lausanne: Frontiers Research Foundation, 2010, Bd. 13 (2022), insges. 8 S.

Treatment of congenital adrenal hyperplasia in children aged 03 years - a retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure
In: European journal of endocrinology - Bristol: BioScientifica Ltd., 1948, Bd. 186 (2022), 5, S. 587-596

Correlation of PET-MRI, pathology, LOH, and surgical success in a case of CHI with atypical large pancreatic focus
In: Journal of the Endocrine Society - Washington, DC: Endocrine Society, 2017, Bd. 6 (2022), 6, S. 1-8

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
In: Orphanet journal of rare diseases - London : BioMed Central, Bd. 17 (2022), Artikel 224, insges. 10 S.

Somatostatin receptors in congenital hyperinsulinism - biology to bedside
In: Frontiers in endocrinology - Lausanne: Frontiers Research Foundation, 2010, Bd. 13 (2022), insges. 7 S.

Optimising care and follow-up of adults with achondroplasia
In: Orphanet journal of rare diseases - London : BioMed Central, Bd. 17 (2022), Artikel 318, insges. 10 S.

Optimising the diagnosis and referral of achondroplasia in Europe - European Achondroplasia Forum best practice recommendations
In: Orphanet journal of rare diseases - London : BioMed Central, Bd. 17 (2022), Artikel 293, insges. 10 S.

Experiences of children and adolescents living with achondroplasia and their caregivers
In: Molecular genetics & genomic medicine - Chichester [u.a.]: Wiley, 2013, Bd. 10 (2022), 4, insges. 13 S.

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia
In: Nature reviews / Endocrinology - London [u.a.] : Nature Publ. Group, Bd. 18 (2022), Heft 3, S. 173-189

Jugendmedizin in Deutschland - Bestandsaufnahme der Kommission Jugendmedizin der Deutschen Akademie für Kinder- und Jugendmedizin (DAKJ) : Kurzfassung - Adolescent medicine in Germany - inventory of the Committee on Adolescent Medicine of the German Academy for Pediatric and Adolescent Medicine (DAKJ)
In: Monatsschrift Kinderheilkunde - Berlin: Springer, Bd. 170 (2022), 1, S. 70-76

Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations
In: European journal of medical genetics - New York, NY [u.a.]: Elsevier, Bd. 65 (2022), Heft 5, S. 1-6, Artikel 104472

Pharmacokinetics and exposure-response of vosoritide in children with achondroplasia
In: Clinical pharmacokinetics - Berlin [u.a.] : Springer, Bd. 61 (2022), Heft 2, S. 263-280

Clinical characteristics of children with Congenital hyperinsulinsm - results from the European Registries for Rare Endocrine Conditions (EuRRECa) project
In: Hormone research in paediatrics - Basel: Karger, 2010, Bd. 94 (2021), Suppl. 1, S. 104

Lifetime impact of achondroplasia in Europe (LIAISE) - findings from a multinational observational study
In: Molecular genetics and metabolism - Orlando, Fla.: Academic Press, 1998, Bd. 132 (2021), Supplement 1, S. S65-S66

Health-related quality of life (HRQoL) in achondroplasia - findings from a multinational, observational study
In: Molecular genetics and metabolism - Orlando, Fla.: Academic Press, 1998, Bd. 132 (2021), Supplement 1, S. S127-S128

Associations between height and health-related quality of life (HRQoL) and functional independence in children with achondroplasia
In: Hormone research in paediatrics - Basel : Karger, Bd. 94 (2021), Heft Suppl. 1, S. 321, Artikel P2-284

Hypoglykämie
In: Differenzialdiagnose Pädiatrie - München: Elsevier; Michalk, Dietrich *1944-* . - 2021, S. 605-610

Technical aspects of paediatric robotic pancreatic enucleation based on a case of an insulinoma
In: The international journal of medical robotics and computer assisted surgery - Chichester: Wiley, 2004, Bd. 17 (2021), 6, insges. 7 S.

Aktualisierte Handlungsempfehlung nach der Leitlinie Pubertas praecox
In: Monatsschrift Kinderheilkunde - Berlin: Springer, Bd. 169 (2021), 12, S. 1171-1173

Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia - 2-year results from an open-label, phase 3 extension study
In: Genetics in medicine - Amsterdam : Elsevier, Bd. 23 (2021), Heft 12, S. 2443-2447

Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation
In: Annals of Pediatric Endocrinology & Metabolism - Seoul: Soc., 2012, Bd. 26 (2021), 4, S. 278-283

Kongenitaler Hyperinsulinismus - Ursachenforschung und Therapie
In: Pädiatrie - München: Springer Medizin, Urban u. Vogel, Bd. 33 (2021), 2, S. 40-44

International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia - data from the I-CAH registry
In: European journal of endocrinology - Bristol : BioScientifica Ltd., Bd. 184 (2021), Heft 4, S. 553-563

Gonadectomy in conditions affecting sex development - a registry-based cohort study
In: European journal of endocrinology - Bristol: BioScientifica Ltd., 1948, Bd. 184 (2021), 6, S. 791-801, insges. 11 S.

Lifetime impact of achondroplasia - current evidence and perspectives on the natural history
In: Bone - Amsterdam [u.a.] : Elsevier Science, Bd. 146 (2021), Artikel 115872, insges. 15 S.

The first European consensus on principles of management for achondroplasia
In: Orphanet journal of rare diseases - London : BioMed Central, Bd. 16 (2021), Artikel 333, insges. 7 S.

How to design a registry for undiagnosed patients in the framework of rare disease diagnosis - suggestions on software, data set and coding system
In: Orphanet journal of rare diseases - London : BioMed Central, Bd. 16 (2021), Artikel 198, insges. 14 S.

Semen quality and testicular adrenal rest tumour development in 46,XY congenital adrenal hyperplasia - the importance of optimal hormonal replacement
In: European journal of endocrinology - Bristol: BioScientifica Ltd., Bd. 184 (2021), 4, S. 487-501

Hydrocortisone dosing in children with classic congenital adrenal hyperplasia - results of the German/Austrian registry
In: Endocrine Connections - Bristol: BioScientifica, 2012, Bd. 10 (2021), 5, S. 561-569, insges. 9 S.

Estimated prevalence of harmful alcohol consumption in pregnant and nonpregnant women in Saxony-Anhalt (NorthEast Germany) using biomarkers
In: Alcoholism - Oxford [u.a.] : Wiley-Blackwell, Bd. 45 (2021), Heft 4, S. 819-827

Real-world estimates of adrenal insufficiencyrelated adverse events in children with congenital adrenal hyperplasia
In: The journal of clinical endocrinology & metabolism - Oxford : Oxford University Press, Bd. 106 (2021), Heft 1, S. e192-e203

Vosoritide treatment accelerates bone growth in children with achondroplasia
In: Future Rare Diseases - London : Future Medicine, Bd. 1 (2021), Heft 3, Artikel FRD14, insges. 9 S.

Case report - contradictory genetics and imaging in focal congenital hyperinsulinism reinforces the need for pancreatic biopsy
In: International journal of pediatric endocrinology - New York, NY: Hindawi, 2009, 2020, Art.-Nr. 17, insgesamt 5 Seiten

Medizinische Betreuung von jungen Frauen mit Ullrich-Turner-Syndrom in Deutschland
In: Deutsche medizinische Wochenschrift: DMW ; Organ der Deutschen Gesellschaft für Innere Medizin (DGIM) ; Organ der Gesellschaft Deutscher Naturforscher und Ärzte (GDNÄ) - Stuttgart: Thieme, 1875, Bd. 145.2020, 4, S. e18-e23, insges. 6 S.[Gesehen am 02.04.2020; Online publiziert: 24.07.2019]

Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome
In: Wellcome open research - London: Wellcome Trust, 2016, Bd. 4.2020, Art.-Nr. 149, insgesamt 20 Seiten

Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation
In: Journal of inherited metabolic disease: JIMD ; official journal of the Society for the Study of Inborn Errors of Metabolism - Hoboken, NJ: Wiley, 1978, Bd. 43.2020, 4, S. 671-693

Malformationen des Zentralnervensystems - seltene Ursachen eines organischen Wachstumshormonmangels bei Kindern
In: Monatsschrift Kinderheilkunde: Organ der Deutschen Gesellschaft für Kinderheilkunde - Berlin: Springer, Bd. 168.2020, 3, S. 246-251, insges. 5 S.[Online First 22. Jun. 2018]

Once-daily, subcutaneous vosoritide therapy in children with achondroplasia - a randomised, double-blind, phase 3, placebo-controlled, multicentre trial
In: The lancet - London [u.a.] : Elsevier, Bd. 396 (2020), Heft 10252, S. 684-692

Management of neonatal hypoglycaemia
In: Hormone research in paediatrics - Basel: Karger, Bd. 91.2019, Suppl. 1, MTE 8, S. 16

Global practice of glucocorticoid and mineralocorticoid treatment in children and adults with congenital adrenal hyperplasia - insights from the I-CAH Registry
In: Hormone research in paediatrics - Basel: Karger, Bd. 91.2019, Suppl. 1, P1-10, S. 132-133

[18]F-DOPA-PET/MRI or /CT in children with congenital hyperinsulinism
In: Hormone research in paediatrics - Basel: Karger, Bd. 91.2019, Suppl. 1, FC9.6, S. 49

Development of an international benchmark for sick day episodes as a core clinical outcome in people with congenital adrenal hyperplasia
In: Hormone research in paediatrics - Basel: Karger, Bd. 91.2019, Suppl. 1, P1-167, S. 209-210

Influence of salt supplementation on drug therapy in children with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency aged 0-3 years - update on a retrospective multicentre analysis using the I-CAH registry
In: Hormone research in paediatrics - Basel: Karger, Bd. 91.2019, Suppl. 1, P1-157, S. 204-205

Endokrinologische Störungen
In: Neonatologie - die Medizin des Früh- und Reifgeborenen - Stuttgart: Georg Thieme Verlag, S. 487-493, 2019

18F-DOPA PET
In: Congenital Hyperinsulinism: A Practical Guide to Diagnosis and Management - Cham: Springer International Publishing, 2019; De León-Crutchlow, Diva D. . - 2019, S. 85-93

Angeborene Knochenerkrankungen
In: Neonatologie - die Medizin des Früh- und Reifgeborenen - Stuttgart: Georg Thieme Verlag, S. 671-672, 2019

Cross-cultural selection and validation of instruments to assess patient-reported outcomes in children and adolescents with achondroplasia
In: Quality of life research - Dordrecht [u.a.]: Springer Science + Business Media B.V, Bd. 28.2019, 9, S. 2553-2563

NR5A1 gene variants repress the ovarianspecific WNT signaling pathway in 46,XX disorders of sex development patients
In: Human mutation - New York, NY [u.a.]: Wiley-Liss, 1992, Bd. 40 (2019), 2, S. 207-216

Meeting report from 2nd ICCBH-ERN BOND spinal complications in children and adults with achondroplasia workshop, Dublin, Ireland, 2nd July 2022
In: Bone - Amsterdam [u.a.]: Elsevier Science, Bd. 165 (2022)

Meeting report from the achondroplasia foramen magnum workshop, Salzburg, Austria 22nd June 2019
In: Bone - Amsterdam [u.a.]: Elsevier Science, Bd. 127.2019, S. 499-502

Quality of life of children with achondroplasia and their parents - a German cross-sectional study
In: Orphanet journal of rare diseases - London: BioMed Central, 2006, Bd. 14.2019, Art.-Nr. 194, insges. 9 S.

Lebenssituation von jungen Frauen mit Ullrich-Turner-Syndrom nach dem Ende der Wachstumshormontherapie - Ergebnisse einer Umfrage in Deutschland
In: Deutsche medizinische Wochenschrift - Stuttgart: Thieme, Bd. 144.2019, 14, S. e87-e93, insges. 7 S.[Gesehen am 10.12.2019]

Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria - discordances in milder genotypes and in screened versus prescreening patients
In: Endocrine Connections - Bristol: BioScientifica, 2012, Bd. 8 (2019), 2, S. 86-94, insges. 9 S.

Quality of life of short-statured children born small for gestational age or idiopathic growth hormone deficiency within 1 year of growth hormone treatment
In: Frontiers in Pediatrics - Lausanne: Frontiers Media, 2013, Bd. 7.2019, Art.-Nr. 164, insges. 11 S.

Gonadectomy for adults with DSD conditions in the International Disorders of Sex Development Registry
In: Hormone research in paediatrics - Basel: Karger, Bd. 90.2018, Suppl. 1, P1-P232, S. 549-550

MetabERN (ERN for Rare Hereditary metabolic Diseases) - first year deliverables
In: Journal of inherited metabolic disease - Dordrecht : Springer - Bd. 41.2018, Suppl. 1, P-453, S. S215

Impact of puberty on final height in children and adolescents with congenital adrenal hyperplasia (CAH)
In: Hormone research in paediatrics: from developmental endocrinology to clinical research - Basel: Karger, Bd. 90.2018, Suppl. 1, P1-P008, S. 128

Two patients with MIRAGE syndrome lacking haematological features - role of somatic second-site reversion SAMD9 mutations
In: Journal of medical genetics - London: BMJ Publishing Group, Bd. 55.2018, 2, S. 81-85

Outcome after hypospadias repair - evaluation using the hypospadias objective penile evaluation score
In: European journal of pediatric surgery - Stuttgart : Thieme, Bd. 28 (2018), Heft 3, S. 268-272

Formal neurocognitive testing in 60 patients with congenital hyperinsulinism
In: Hormone research in paediatrics - Basel: Karger, Bd. 89.2018, 1, S. 1-6

Effekte eines späten Beginns einer Therapie mit Wachstumshormon - Ergebnisse eines Expertenworkshops
In: Monatsschrift Kinderheilkunde - Berlin: Springer, Bd. 166.2018, 4, S. 317-324, insges. 8 S.[Gesehen am 05.04.2019; First online: 07 March 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 dose
In: Hormone research in paediatrics - Basel: Karger, Bd. 89 (2018), 1, S. 7-12, insges. 6 S.

Growth in achondroplasia - development of height, weight, head circumference, and body mass index in a European cohort
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 176.2018, 8, S. 1723-1734

Characterization of diabetes following pancreatic surgery in patients with congenital hyperinsulinism
In: Orphanet journal of rare diseases - London: BioMed Central, 13(2018) Artikel-Nummer 230, 10 Seiten[Gesehen am 04.07.2019]

A multicenter experience with long-acting somatostatin analogues in patients with congenital hyperinsulinism
In: Hormone research in paediatrics - Basel: Karger, Bd. 89.2018, 2, S. 82-89

Development of body proportions in achondroplasia - sitting height, leg length, arm span, and foot length
In: American journal of medical genetics / A - New York, NY: Wiley-Liss, Bd. 176.2018, 9, S. 1819-1829

Bilirubin, urobilinogen, pancreas elastase and bile acid in drain fluid - the GBUP-study : analysis of biomarkers for a colorectal anastomotic leakage
In: Annals of medicine and surgery - Amsterdam [u.a.]: Elsevier, Bd. 35.2018, S. 44-50

Mutation screening in 15 patients with suspected triple A syndrome revealed a novel mutation in SAMD9
In: 60. Deutscher Kongress für Endokrinologie - Hannover: pharma service - eine Business Unit der documediaS GmbH, 2017, 2017, Abstract-ID: P1-04-10

Non-familial short stature due to a de novo mutation in aggrecan
In: Hormone research in paediatrics: from developmental endocrinology to clinical research - Basel: Karger, 2010, Bd. 88.2017, Suppl. 1, P3-852, Seite 504-505

Defining the dose, type and timing of glucocorticoid and mineralocorticoid replacement in 256 children and adults with congenital adrenal hyperplasia (CAH) in the I-CAH registry
In: Hormone research in paediatrics: from developmental endocrinology to clinical research - Basel: Karger, 2010, Bd. 88.2017, Suppl. 1, P2-1503, Seite 358

Mutation in SAMD9 extends the genetic and clinical spectrum of triple A syndrome
In: Hormone research in paediatrics: from developmental endocrinology to clinical research - Basel: Karger, 2010, Bd. 88.2017, Suppl. 1, FC98, Seite 53

The prevalence of adults with DSD conditions at risk of hypogonadism in the International Disorders of Sex Development Registry
In: Hormone research in paediatrics: from developmental endocrinology to clinical research - Basel: Karger, 2010, Bd. 88.2017, Suppl. 1, P3-1511, Seite 557-558

Diagnosis and management of SilverRussell syndrome - first international consensus statement
In: Nature reviews / Endocrinology - London [u.a.]: Nature Publ. Group, 2009, Bd. 13.2017, 2, S. 105-124

Aggrecan mutations in nonfamilial short stature and short stature without accelerated skeletal maturation
In: Journal of the Endocrine Society - Washington, DC: Endocrine Society, 2017, Bd. 1.2017, 8, S. 1006-1011

Spontaneous growth and effect of early therapy with calcitriol and phosphate in X-linked hypophosphatemic rickets
In: Pediatric endocrinology reviews: PER diabetes, nutrition, metabolism, genetics - Netanya: Y.S. Medical Media Ltd, Bd. 15.2017, Suppl. 1, Seite 119-122

Growth and final height among children with phenylketonuria
In: Pediatrics - Elk Grove Village, Ill.: American Academy of Pediatrics, Bd. 140.2017, 5, Art.-Nr. e20170015, insges. 14 S.

Diagnostik und Therapie des Silver-Russell-Syndroms - Zusammenfassung des ersten internationalen Konsensus-Statements
In: Monatsschrift Kinderheilkunde - Berlin: Springer, 1996, Bd. 165.2017, 10, S. 895-904

Pädiatrische Tumoren
In: PET/CT-Atlas: Interdisziplinäre PET/CT- und PET/MR-Diagnostik und Therapie / Wolfgang Mohnike, Gustav Hör, Andreas Hertel, Heinrich Schelbert (Hrsg.) - Berlin: Springer . - 2016, S. 435-464

Kongenitaler Hyperinsulinismus
In: PET/CT-Atlas : Interdisziplinäre PET/CT- und PET/MR-Diagnostik und Therapie. - Berlin : Springer, S. 759-763, 2016

Blood pressure in a large cohort of children and adolescents with classic adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency
In: American journal of hypertension: the official journal of the American Society of Hypertension - Oxford: Oxford Univ. Press, 1988, Bd. 29.2016, 2, S. 266-272, insges. 7 S.[Published: 11 June 2015]

Absolute Raritäten
In: Deutsches Ärzteblatt international - Köln : Dt. Ärzte-Verl., Bd. 113 (2016), Heft 27/28, S. 487

Hereditäre Skeletterkrankungen unter besonderer Berücksichtigung der Gruppe genetisch entzündlicher/rheumatoider Osteoarthropathien
In: Aktuelle Rheumatologie - Stuttgart: Thieme, 1980, Bd. 41.2016, 5, S. 377-382

Surgery in focal congenital hyperinsulinism (CHI) - the Hyperinsulinism Germany International experience in 30 children
In: Pediatric endocrinology reviews: PER diabetes, nutrition, metabolism, genetics - Netanya: Y.S. Medical Media Ltd., Bd. 14 (2016), 2, S. 129-137

Multilokuläre Riesenmongolenflecken, Hepatomegalie und Skelettanomalien in der Differenzialdiagnose angeborener Stoffwechselerkrankungen
In: Journal der Deutschen Dermatologischen Gesellschaft: JDDG : Organ der Deutschen Dermatologischen Gesellschaft (DDG) und der Österreichischen Gesellschaft für Dermatologie und Venerologie (ÖGDV): JDDG ; Organ der Deutschen Dermatologischen Gesellschaft (DDG) und der Österreichischen Gesellschaft für Dermatologie und Venerologie (ÖGDV)/ Deutsche Dermatologische Gesellschaft - Chichester: Blackwell, 2003, Bd. 13.2015, 4, S. 376

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

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

Multiple polycyclic brownish to reddish macules on the skin in an infant
In: JAMA dermatology - Chicago, Ill: American Medical Association, 2013, Bd. 151.2015, 11, S. 1249-1250

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.

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

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

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

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

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

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

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

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

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

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

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

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

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
In: Early human development - Amsterdam : Elsevier North-Holland Biomedical Press, Bd. 86 (2010), Heft 5, S. 287-294

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)

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

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

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

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, ISBN: 978-3-936072-48-8 [Literaturangaben]

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

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

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 - 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

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

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:

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

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

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

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

Nebenniere.
In:

Wachstum und Entwicklungsstörungen.
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: