Found: 49
Select item for more details and to access through your institution.
Exploring Dried Blood Spot Cortisol Concentrations as an Alternative for Monitoring Pediatric Adrenal Insufficiency Patients: A Model-Based Analysis.
- Published in:
- Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.819590
- By:
- Publication type:
- Article
Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Model-Informed Target Morning 17α-Hydroxyprogesterone Concentrations in Dried Blood Spots for Pediatric Congenital Adrenal Hyperplasia Patients.
- Published in:
- Pharmaceuticals (14248247), 2023, v. 16, n. 3, p. 464, doi. 10.3390/ph16030464
- By:
- Publication type:
- Article
A Prospective Study of Children Aged 0-8 Years with CAH and Adrenal Insufficiency Treated with Hydrocortisone Granules.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Real-World Estimates of Adrenal Insufficiency-Related Adverse Events in Children With Congenital Adrenal Hyperplasia.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Case Report: Rubella Virus-Induced Cutaneous Granulomas in Two Pediatric Patients With DNA Double Strand Breakage Repair Disorders - Outcome After Hematopoietic Stem Cell Transplantation.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Harmonization of growth hormone measurements with different immunoassays by data adjustment.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2011, v. 49, n. 7, p. 1135, doi. 10.1515/CCLM.2011.201
- By:
- Publication type:
- Article
Development and testing in healthy adults of oral hydrocortisone granules with taste masking for the treatment of neonates and infants with adrenal insufficiency.
- Published in:
- 2015
- By:
- Publication type:
- Journal Article
The heterogeneity of focal forms of congenital hyperinsulinism.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Familial focal congenital hyperinsulinism.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Primary sulphonylurea therapy in a newborn with transient neonatal diabetes attributable to a paternal uniparental disomy 6q24 (UPD6).
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Characterization of diabetes following pancreatic surgery in patients with congenital hyperinsulinism.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Simultaneous newborn screening for sickle cell disease, biotinidase deficiency, and hereditary tyrosinemia type 1 with an optimized tandem mass spectrometry protocol.
- Published in:
- Annals of Hematology, 2022, v. 101, n. 8, p. 1859, doi. 10.1007/s00277-022-04811-0
- By:
- Publication type:
- Article
Newborn screening by tandem mass spectrometry confirms the high prevalence of sickle cell disease among German newborns.
- Published in:
- Annals of Hematology, 2019, v. 98, n. 1, p. 47, doi. 10.1007/s00277-018-3477-4
- By:
- Publication type:
- Article
Evaluation of [<sup>18</sup>F]Fluoro-L-DOPA Positron Emission Tomography-Computed Tomography for Surgery in Focal Congenital Hyperinsulinism.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 3, p. 869, doi. 10.1210/jc.2007-2036
- By:
- Publication type:
- Article
Height Gain with Combined Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Two Pubertal Siblings with a Growth HormoneReleasing Hormone Receptor Mutation.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 1, p. 204, doi. 10.1210/jc.2007-1572
- By:
- Publication type:
- Article
Longitudinal Imaging Reveals Pituitary Enlargement Preceding Hypoplasia in Two Brothers with Combined Pituitary Hormone Deficiency Attributable to PROP1 Mutation.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 9, p. 4353, doi. 10.1210/jcem.86.9.7828
- By:
- Publication type:
- Article
Congenital Adrenal Hyperplasia with Non-functional Mutations in Both Alleles in a Clinically Unaffected Infant.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Incidence of sickle cell disease in an unselected cohort of neonates born in Berlin, Germany.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1051, doi. 10.1038/ejhg.2013.286
- By:
- Publication type:
- Article
Rationale of a lower dexamethasone dose in prenatal congenital adrenal hyperplasia therapy based on pharmacokinetic modelling.
- Published in:
- European Journal of Endocrinology, 2021, v. 185, n. 3, p. 365, doi. 10.1530/EJE-21-0395
- By:
- Publication type:
- Article
International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry.
- Published in:
- European Journal of Endocrinology, 2021, v. 184, n. 4, p. 553, doi. 10.1530/EJE-20-1249
- By:
- Publication type:
- Article
Quality of compounded hydrocortisone capsules used in the treatment of children.
- Published in:
- European Journal of Endocrinology, 2017, v. 177, n. 2, p. 239, doi. 10.1530/eje-17-0248
- By:
- Publication type:
- Article
Real-life GH dosing patterns in children with GHD, TS or born SGA: a report from the NordiNet® International Outcome Study.
- Published in:
- European Journal of Endocrinology, 2017, v. 177, n. 2, p. 145, doi. 10.1530/EJE-16-1055
- By:
- Publication type:
- Article
Is safety of childhood growth hormone therapy related to dose? Data from a large observational study.
- Published in:
- European Journal of Endocrinology, 2017, v. 176, n. 3, p. X1, doi. 10.1530/EJE-15-1017e
- By:
- Publication type:
- Article
Diabetes caused by insulin gene (INS) deletion: clinical characteristics of homozygous and heterozygous individuals.
- Published in:
- European Journal of Endocrinology, 2011, v. 165, n. 2, p. 255, doi. 10.1530/EJE-11-0208
- By:
- Publication type:
- Article
Type 2 diabetes and impaired glucose tolerance in European children and adolescents with obesity a problem that is no longer restricted to minority groups.
- Published in:
- European Journal of Endocrinology, 2004, v. 151, n. 2, p. 0199
- By:
- Publication type:
- Article
Molecular characterization of the cfb gene encoding group B streptococcal CAMP-factor.
- Published in:
- Medical Microbiology & Immunology, 1994, v. 183, n. 5, p. 239, doi. 10.1007/BF00198458
- By:
- Publication type:
- Article
Open-Source Technology for Real-Time Continuous Glucose Monitoring in the Neonatal Intensive Care Unit: Case Study in a Neonate With Transient Congenital Hyperinsulinism.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Role of Ga somatostatin receptor PET/CT in the detection of endogenous hyperinsulinaemic focus: an explorative study.
- Published in:
- European Journal of Nuclear Medicine & Molecular Imaging, 2016, v. 43, n. 9, p. 1593, doi. 10.1007/s00259-016-3331-7
- By:
- Publication type:
- Article
Somatostatin or octreotide as treatment options for chylothorax in young children: a systematic review.
- Published in:
- 2006
- By:
- Publication type:
- journal article
68Ga-NODAGA-exendin-4 PET improves the detection of focal congenital hyperinsulinism.
- Published in:
- Journal of Nuclear Medicine, 2021, v. 62, n. 12, p. 1, doi. 10.2967/jnumed.121.262327
- By:
- Publication type:
- Article
<sup>68</sup>Ga-NODAGA-exendin-4 PET improves the detection of focal congenital hyperinsulinism.
- Published in:
- Journal of Nuclear Medicine, 2021, v. 62, n. 11, p. 1, doi. 10.2967/jnumed.121.262327
- By:
- Publication type:
- Article
<sup>68</sup>Ga-NODAGA-exendin-4 PET improves the detection of focal congenital hyperinsulinism.
- Published in:
- Journal of Nuclear Medicine, 2021, v. 62, n. 10, p. 1, doi. 10.2967/jnumed.121.262327
- By:
- Publication type:
- Article
<sup>68</sup>Ga-NODAGA-exendin-4 PET improves the detection of focal congenital hyperinsulinism.
- Published in:
- Journal of Nuclear Medicine, 2021, v. 62, n. 8, p. 1, doi. 10.2967/jnumed.121.262327
- By:
- Publication type:
- Article
<sup>68</sup>Ga-NODAGA-exendin-4 PET improves the detection of focal congenital hyperinsulinism.
- Published in:
- Journal of Nuclear Medicine, 2021, v. 62, n. 7, p. 1, doi. 10.2967/jnumed.121.262327
- By:
- Publication type:
- Article
How to improve information extraction from German medical records.
- Published in:
- IT: Information Technology, 2017, v. 59, n. 4, p. 171, doi. 10.1515/itit-2016-0027
- By:
- Publication type:
- Article
Normative Thyroid-Stimulating Hormone Values for Healthy Nigerian Newborns.
- Published in:
- Hormone Research in Paediatrics, 2016, v. 85, n. 1, p. 22, doi. 10.1159/000441722
- By:
- Publication type:
- Article
Two Novel GATA6 Mutations Cause Childhood-Onset Diabetes Mellitus, Pancreas Malformation and Congenital Heart Disease.
- Published in:
- Hormone Research in Paediatrics, 2013, v. 79, n. 4, p. 250, doi. 10.1159/000348844
- By:
- Publication type:
- Article
Long-Term Lanreotide Treatment in Six Patients with Congenital Hyperinsulinism.
- Published in:
- Hormone Research in Paediatrics, 2012, v. 78, n. 2, p. 106, doi. 10.1159/000341525
- By:
- Publication type:
- Article
Gender Influences Short-Term Growth Hormone Treatment Response in Children.
- Published in:
- Hormone Research in Paediatrics, 2012, v. 77, n. 3, p. 188, doi. 10.1159/000337570
- By:
- Publication type:
- 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
Neonatal Screening for Congenital Metabolic and Endocrine Disorders: Results From Germany for the Years 2006-2018.
- Published in:
- Deutsches Ärzteblatt International, 2021, v. 118, n. 7, p. 101, doi. 10.3238/arztebl.m2021.0009
- By:
- Publication type:
- Article
Early glibenclamide treatment in a clinical newborn with KCNJ11 gene mutation.
- Published in:
- Diabetes Care, 2007, v. 30, n. 10, p. e104, doi. 10.2337/dc07-1318
- By:
- Publication type:
- Article
Neugeborenen-Screening aus Trockenblut (NBS) in Deutschland: Status quo und Vorstellung eines Konzeptes zur Weiterentwicklung.
- Published in:
- Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz, 2023, v. 66, n. 11, p. 1195, doi. 10.1007/s00103-023-03771-8
- By:
- Publication type:
- Article
Comparative meta‐analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia.
- Published in:
- Clinical Endocrinology, 2020, v. 93, n. 3, p. 346, doi. 10.1111/cen.14267
- By:
- Publication type:
- Article
Absorption and tolerability of taste-masked hydrocortisone granules in neonates, infants and children under 6 years of age with adrenal insufficiency.
- Published in:
- Clinical Endocrinology, 2018, v. 88, n. 1, p. 21, doi. 10.1111/cen.13447
- By:
- Publication type:
- Article
Occurrence of giant focal forms of congenital hyperinsulinism with incorrect visualization by <sup>18</sup>F DOPA- PET/ CT scanning.
- Published in:
- Clinical Endocrinology, 2014, v. 81, n. 6, p. 847, doi. 10.1111/cen.12473
- By:
- Publication type:
- Article
Comparison of response to 2-years' growth hormone treatment in children with isolated growth hormone deficiency, born small for gestational age, idiopathic short stature, or multiple pituitary hormone deficiency: combined results from two large observational studies
- Published in:
- International Journal of Pediatric Endocrinology, 2012, p. 1, doi. 10.1186/1687-9856-2012-22
- By:
- Publication type:
- Article