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Implications of the Phenotype of POMC Deficiency for the Role of POMC-Derived Peptides in Skin Physiology.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 885, n. 1, p. 419, doi. 10.1111/j.1749-6632.1999.tb08702.x
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- Publication type:
- Article
Rickets guidance: part II—management.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 10, p. 2289, doi. 10.1007/s00467-022-05505-5
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- Publication type:
- Article
Rickets guidance: part I—diagnostic workup.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 9, p. 2013, doi. 10.1007/s00467-021-05328-w
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- Publication type:
- Article
Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets.
- Published in:
- Pediatric Nephrology, 2018, v. 33, n. 3, p. 447, doi. 10.1007/s00467-017-3820-3
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- Publication type:
- Article
FGF23 and its role in X-linked hypophosphatemia-related morbidity.
- Published in:
- 2019
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- Publication type:
- journal article
Bone Fractures in Children and Young Adults With Type 1 Diabetes: Age Distribution, Fracture Location, and the Role of Glycemic Control.
- Published in:
- Journal of Bone & Mineral Research, 2021, v. 36, n. 12, p. 2371, doi. 10.1002/jbmr.4451
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- Publication type:
- Article
Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.
- Published in:
- Journal of Bone & Mineral Research, 2021, v. 36, n. 11, p. 2193, doi. 10.1002/jbmr.4418
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- Publication type:
- Article
A Novel GNAS Duplication Associated With Loss‐of‐Methylation Restricted to Exon A/B Causes Pseudohypoparathyroidism Type Ib (PHP1B).
- Published in:
- Journal of Bone & Mineral Research, 2021, v. 36, n. 3, p. 546, doi. 10.1002/jbmr.4209
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- Publication type:
- Article
Acceptance of a reusable self-injection device for recombinant human growth hormone: final data from a questionnaire-based, cross-sectional, international, multicenter, observational study in pediatric patients.
- Published in:
- Medical Devices: Evidence & Research, 2016, v. 9, p. 317, doi. 10.2147/MDER.S115933
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- Publication type:
- Article
Acceptability of the reusable SurePal™ selfinjection device for Omnitrope® among pediatric patients: results from a questionnaire-based, cross-sectional, multicenter observational study.
- Published in:
- Medical Devices: Evidence & Research, 2015, v. 8, p. 389, doi. 10.2147/MDER.S93209
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- Publication type:
- Article
Krogh's principle for a new era.
- Published in:
- 2003
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- Publication type:
- Editorial
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
- Published in:
- Nature Genetics, 2003, v. 34, n. 4, p. 379, doi. 10.1038/ng1221
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- Publication type:
- Article
Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype.
- Published in:
- European Journal of Endocrinology, 2016, v. 175, n. 5, p. 421, doi. 10.1530/EJE-16-0223
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- Publication type:
- Article
Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts.
- Published in:
- European Journal of Endocrinology, 2016, v. 174, n. 5, p. R189, doi. 10.1530/EJE-15-1028
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- Publication type:
- Article
Introduction of an Adaptive Smoothed Particles Hydrodynamics Formulation.
- Published in:
- PAMM: Proceedings in Applied Mathematics & Mechanics, 2014, v. 14, n. 1, p. 621, doi. 10.1002/pamm.201410298
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- Publication type:
- Article
Albright Hereditary Osteodystrophy.
- Published in:
- Pediatric Dermatology, 2011, v. 28, n. 2, p. 135, doi. 10.1111/j.1525-1470.2010.01226.x
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- Publication type:
- Article
Age-related stature and linear body segments in children with X-linked hypophosphatemic rickets.
- Published in:
- Pediatric Nephrology, 2011, v. 26, n. 2, p. 223, doi. 10.1007/s00467-010-1705-9
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- Publication type:
- Article
Biological Significance of Anti-GH Antibodies in Children Treated with rhGH.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 91, n. 1, p. 17, doi. 10.1159/000497409
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- Publication type:
- Article
Sequential measurements of IGF-I serum concentrations in adolescents with Laron syndrome treated with recombinant human IGF-I (rhIGF-I).
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 8, p. 895, doi. 10.1515/jpem-2018-0139
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- Publication type:
- Article
LMS-Based Pediatric Reference Values for Parameters of Phosphate Homeostasis in the HARP Cohort.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 3, p. 668, doi. 10.1210/clinem/dgad597
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- Publication type:
- Article
The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02882-4
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- Publication type:
- Article
Investigating significant health trends in growth hormone treatments registry: rationale, aims and design of a nationwide prospective registry (study protocol)
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02716-3
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- Publication type:
- Article
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.
- Published in:
- Nature Genetics, 2000, v. 25, n. 2, p. 182, doi. 10.1038/76041
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- Publication type:
- Article
Obesity Due to Proopiomelanocortin Deficiency: Three New Cases and Treatment Trials with Thyroid Hormone and ACTH4 –10.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 10, p. 4633, doi. 10.1210/jc.2003-030502
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- Publication type:
- Article
Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10.
- Published in:
- 2003
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- Publication type:
- journal article
Congenital Central Hypothyroidism due to Homozygous Thyrotropin β 313ΔT Mutation Is Caused by a Founder Effect.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 10, p. 4811, doi. 10.1210/jc.2002-020297
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- Publication type:
- Article
Umfassende Versorgung bei komplexen Erkrankungen.
- Published in:
- 2020
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- Publication type:
- Editorial
Biopsychosoziales Betreuungskonzept für Kinder mit X‑chromosomaler Hypophosphatämie (XLH): Beispiel für den multiprofessionellen Ansatz Sozialpädiatrischer Zentren.
- Published in:
- Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz, 2020, v. 63, n. 7, p. 813, doi. 10.1007/s00103-020-03171-2
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- Publication type:
- Article
Evolving pituitary hormone deficits in primarily isolated GHD: a review and experts' consensus.
- Published in:
- Molecular & Cellular Pediatrics, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40348-020-00108-2
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- Publication type:
- Article
Vitamin D supplementation after the second year of life: joint position of the Committee on Nutrition, German Society for Pediatric and Adolescent Medicine (DGKJ e.V.), and the German Society for Pediatric Endocrinology and Diabetology (DGKED e.V.).
- Published in:
- Molecular & Cellular Pediatrics, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1186/s40348-019-0090-0
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- Publication type:
- Article
Burosumab for X-linked hypophosphatemia in children and adolescents: Opinion based on early experience in seven European countries.
- Published in:
- Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2022.1034580
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- Publication type:
- Article
Treatment of Dwarfism With Recombinant Human Insulin-Like Growth Factor-1.
- Published in:
- Deutsches Ärzteblatt International, 2009, v. 106, n. 43, p. 2
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- Publication type:
- Article
Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes.
- Published in:
- 2017
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- Publication type:
- journal article
A Homozygous CaSR Mutation Causing a FHH Phenotype Completely Masked by Vitamin D Deficiency Presenting as Rickets.
- Published in:
- 2014
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- Publication type:
- Journal Article
Increased Transactivation Associated with SOX3 Polyalanine Tract Deletion in a Patient with Hypopituitarism
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 4, p. E685, doi. 10.1210/jc.2010-1239
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- Publication type:
- Article
Novel Activating Mutations of the Calcium-Sensing Receptor: The Calcilytic NPS-2143 Mitigates Excessive Signal Transduction of Mutant Receptors.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 10, p. E229, doi. 10.1210/jc.2010-0651
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- Publication type:
- Article
Longitudinal analysis of vitamin D levels considering sunshine duration and suggestion for a standardised approach for vitamin D supplementation in children and adolescents with obesity.
- Published in:
- BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-024-04823-x
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- Publication type:
- Article
Mild COVID-19 despite autoantibodies against type I IFNs in autoimmune polyendocrine syndrome type 1.
- Published in:
- 2021
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- Publication type:
- journal article
Generalized arterial calcification of infancy: two siblings with prolonged survival.
- Published in:
- 2006
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- Publication type:
- journal 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
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- Publication type:
- Article
Real-world non-interventional post-authorization safety study of long-term use of burosumab in children and adolescents with X-linked hypophosphatemia: first interim analysis.
- Published in:
- Therapeutic Advances in Chronic Disease, 2024, p. 1, doi. 10.1177/20406223241247643
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- Publication type:
- Article
Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-linked hypophosphataemia: rationale and description.
- Published in:
- Therapeutic Advances in Chronic Disease, 2022, p. 1, doi. 10.1177/20406223221117471
- By:
- Publication type:
- Article
Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-linked hypophosphataemia: rationale and description.
- Published in:
- Therapeutic Advances in Chronic Disease, 2022, p. 1, doi. 10.1177/20406223221117471
- By:
- Publication type:
- Article
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.
- Published in:
- Human Mutation, 2008, v. 29, n. 1, p. 59, doi. 10.1002/humu.20588
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- Publication type:
- Article
LMS-based continuous pediatric reference values for soluble receptor activator of nuclear factor kappa B ligand (sRANKL) and osteoprotegerin (OPG) in the HARP cohort.
- Published in:
- Osteoporosis International, 2024, v. 35, n. 3, p. 533, doi. 10.1007/s00198-023-06959-5
- By:
- Publication type:
- Article
The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study.
- Published in:
- 2020
- By:
- Publication type:
- journal article
A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2019, v. 104, n. 4, p. 1079, doi. 10.1210/jc.2018-01250
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- Publication type:
- Article
A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Mean High-Dose l-Thyroxine Treatment Is Efficient and Safe to Achieve a Normal IQ in Young Adult Patients With Congenital Hypothyroidism.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Serum levels of Midkine in children and adolescents without malignant disease.
- Published in:
- Pediatrics International, 2010, v. 52, n. 1, p. 75, doi. 10.1111/j.1442-200X.2009.02885.x
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- Publication type:
- Article