Endo-ERN Publications Database
895 publication(s) found matching the search criteria
Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network
Author(s):
Heard J, Vrinten C, Schlander M, Bellettato CM, van Lingen C, Scarpa M
Affiliated Institution / ERN:
ERN BOND ;
Condition / Disease:
Orphan drug availability; hereditary metabolic diseases;
Publication:
Orphanet Journal of Rare Diseases v15.1
Year:
2020
ORPHAcode / other:
DOI:
10.1186/s13023-019-1280-5
Keywords:
Access to treatment.,European Reference Network.,Hereditary Metabolic Diseases.,Inborn errors of metabolism.,Orphan medicinal product
Predictors of dopamine agonist resistance in prolactinoma patients
Author(s):
Vermeulen E, D’Haens J, Stadnik T, Unuane D, Barbe K, Van Velthoven V, Gläsker S
Affiliated Institution / ERN:
UZ Brussels ;
Condition / Disease:
Prolactinoma
Publication:
BMC Endocrine Disorders v20.1
Year:
2020
ORPHAcode / other:
ORPHA2965
Body Composition and Bone Mineral Density in Craniopharyngioma Patients: A Longitudinal Study Over 10 Years
Author(s):
van Santen SS, Olsson DS, Hammarstrand C, Wijnen M, Fiocco M, van den Heuvel-Eibrink MM, Johannsson G, Janssen JAMJL, van der Lely AJ, Neggers SJCMM
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ; University Medical Center Utrecht ; Sahlgrenska University Hospital ; Leiden University Medical Center ;
Condition / Disease:
Craniopharyngioma
Publication:
The Journal of Clinical Endocrinology & Metabolism v105.12 pe4626-e4637
Year:
2020
ORPHAcode / other:
ORPHA54595
DOI:
10.1210/clinem/dgaa607
Keywords:
DXA,body composition,bone mineral density,craniopharyngioma,longitudinal study,sarcopenia
Rare genetic forms of obesity: From gene to therapy
Author(s):
Clément K, Mosbah H, Poitou C
Affiliated Institution / ERN:
Condition / Disease:
Genetic obesity
Publication:
Physiology & Behavior v227 p113134
Year:
2020
ORPHAcode / other:
OPRHA77828
DOI:
10.1016/j.physbeh.2020.113134
Keywords:
Genetics,Leptin-melanocortin pathway,Monogenic non-syndromic,Obesity
Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials
Author(s):
Clément K, van den Akker E, Argente J, Bahm A, Chung WK, Connors H, De Waele K, Farooqi IS, Gonneau-Lejeune J, Gordon G, Kohlsdorf K, Poitou C, Puder L, Swain J, Stewart M, Yuan G, Wabitsch M, Kühnen P, Pigeon-Kherchiche P, Flaus-Furmaniuk A, Bald M, Denzer C, von Schnurbein J, Abawi O, Blume-Peytavi U, Krabusch P, Mai K, Schnabel D, Wiegand S, Flück CE, Schulz E, Voss E, Bratina N, Weiss K, Martos-Moreno GÃ, Danset A, Gougis P, Dubern B, Clément K, van den Akker EL, Argente J, Bahm AL, Chung WK, Connors HS, De Waele K, Farooqi IS, Gonneau-Lejeune J, Gordon GA, Poitou C, Puder L, Swain JM, Stewart MW, Yuan G, Wabitsch M, Kühnen P
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; Erasmus MC: University Medical Center Rotterdam ; Ghent University Hospital ; Ulm University Medical Center ; Charité Universitätsmedizin Berlin ;
Condition / Disease:
Non-Syndromic Genetic Obesity - Other
Publication:
The Lancet Diabetes & Endocrinology v8.12 p960-970
Year:
2020
ORPHAcode / other:
ORPHA98267
Insulinpumpe, kontinuierliche und kapilläre Glukosemessung bei Kindern, Jugendlichen und Erwachsenen mit Diabetes mellitus: Daten des DPV-Registers zwischen 1995 und 2019
Author(s):
Schöttler H, Auzanneau M, Best F, Braune K, Freff M, Heidtmann B, Jung R, Karges B, Klee D, Müller A, Schierloh U, Vogel C, Holl RW
Affiliated Institution / ERN:
Condition / Disease:
Diabetes Mellits
Publication:
Diabetologie und Stoffwechsel v15.06 p477-486
Year:
2020
ORPHAcode / other:
5A10
DOI:
10.1055/a-1259-1190
Keywords:
insulin pump; continuous glucose monitoring; diabetes mellitus; CGM; CSII;
Risk factors and management of pasireotide-associated hyperglycemia in acromegaly
Author(s):
Gadelha MR, Gu F, Bronstein MD, Brue TC, Fleseriu M, Shimon I, van der Lely AJ, Ravichandran S, Kandra A, Pedroncelli AM, Colao AAL
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
Endocrine Connections v9.12 p1178-1190
Year:
2020
ORPHAcode / other:
ORPHA963
Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data
Author(s):
Riccio E, Zanfardino M, Ferreri L, Santoro C, Cocozza S, Capuano I, Imbriaco M, Feriozzi S, Pisani A, Pisani A, Riccio E, Cocozza S, Santoro C, Esposito R, Imbriaco M, Russo C, Di Risi T, Chiariotti L, Spinelli L, Pontillo A, Cuocolo A, Cennamo G, Colao A
Affiliated Institution / ERN:
ERN BOND ;
Condition / Disease:
Fabry disease
Publication:
European Journal of Human Genetics v28.12 p1662-1668
Year:
2020
ORPHAcode / other:
ORPHA:324
Multidisciplinary management of acromegaly: A consensus
Author(s):
Giustina A, Barkhoudarian G, Beckers A, Ben-Shlomo A, Biermasz N, Biller B, Boguszewski C, Bolanowski M, Bollerslev J, Bonert V, Bronstein MD, Buchfelder M, Casanueva F, Chanson P, Clemmons D, Fleseriu M, Formenti AM, Freda P, Gadelha M, Geer E, Gurnell M, Heaney AP, Ho KKY, Ioachimescu AG, Lamberts S, Laws E, Losa M, Maffei P, Mamelak A, Mercado M, Molitch M, Mortini P, Pereira AM, Petersenn S, Post K, Puig-Domingo M, Salvatori R, Samson SL, Shimon I, Strasburger C, Swearingen B, Trainer P, Vance ML, Wass J, Wierman ME, Yuen KCJ, Zatelli MC, Melmed S
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
Reviews in Endocrine and Metabolic Disorders v21.4 p667-678
Year:
2020
ORPHAcode / other:
ORPHA963
DOI:
10.1007/s11154-020-09588-z
Keywords:
Acromegaly,Consensus,Medical therapy,Multidisciplinary management,Pituitary tumor centers of excellence,Radiotherapy,Surgery
Hair cortisol-a method to detect chronic cortisol levels in patients with Prader-Willi syndrome
Author(s):
Shukur HH, de Rijke YB, van Rossum EFC, Hussain-Alkhateeb L, Höybye C
Affiliated Institution / ERN:
Condition / Disease:
Prader-Willi syndrome
Publication:
BMC Endocrine Disorders v20.1
Year:
2020
ORPHAcode / other:
ORPHA739
DOI:
10.1186/s12902-020-00646-w
Keywords:
Chronic stress,Hair cortisol,Obesity,Prader-Willi syndrome
High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench
Author(s):
Bergen DJ, Maurizi A, Formosa MM, McDonald GL, El-Gazzar A, Hassan N, Brandi M, Riancho JA, Rivadeneira F, Ntzani E, Duncan EL, Gregson CL, Kiel DP, Zillikens MC, Sangiorgi L, Högler W, Duran I, Mäkitie O, Van Hul W, Hendrickx G
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ; ERN BOND ;
Condition / Disease:
Publication:
Journal of Bone and Mineral Research v38.2 p229-247
Year:
2020
ORPHAcode / other:
DOI:
10.1002/jbmr.4715
Keywords:
ANABOLICS,ANIMAL MODELS,CELL/TISSUE SIGNALING,DISEASES AND DISORDERS OF/RELATED TO BONE,GENETIC ANIMAL MODELS,GENETIC RESEARCH,PARACRINE PATHWAYS,THERAPEUTICS
Etiology and Pathophysiology of Hypoparathyroidism: A Narrative Review
Author(s):
Pasieka JL, Wentworth K, Yeo CT, Cremers S, Dempster D, Fukumoto S, Goswami R, Houillier P, Levine MA, Pasternak JD, Perrier ND, Sitges-Serra A, Shoback DM
Affiliated Institution / ERN:
Reference centre for rare diseases of calcium and phosphate-HEGP ;
Condition / Disease:
Hypoparathyroidism
Publication:
Journal of Bone and Mineral Research v37.12 p2586-2601
Year:
2020
ORPHAcode / other:
ORPHA181405
DOI:
10.1002/jbmr.4714
Keywords:
CELL/TISSUE SIGNALING,DISORDERS OF CALCIUM/PHOSPHATE METABOLISM,ENDOCRINE PATHWAYS,HORMONE REPLACEMENT/RECEPTOR MODULATORS,PARATHYROID-RELATED DISORDERS,PTH/VIT D/FGF23,THERAPEUTICS
Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen
Author(s):
Costantini A, Mäkitie RE, Hartmann MA, Fratzl-Zelman N, Zillikens MC, Kornak U, Søe K, Mäkitie O
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ; ERN BOND ;
Condition / Disease:
Publication:
Journal of Bone and Mineral Research v37.9 p1623-1641
Year:
2020
ORPHAcode / other:
DOI:
10.1002/jbmr.4668
Keywords:
BONE HISTOMORPHOMETRY,BONE MODELING AND REMODELING,GENETIC RESEARCH,OSTEOPOROSIS,WNT/β-CATENIN/LRPS
Comaneci-Assisted Coiling as a Treatment Option for Acutely Ruptured Wide Neck Cerebral Aneurysm: Case Series of 118 Patients
Author(s):
Sirakov A, Minkin K, Penkov M, Ninov K, Karakostov V, Sirakov S
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Neurosurgery v87.6 p1148-1156
Year:
2020
ORPHAcode / other:
DOI:
10.1093/neuros/nyaa200
Keywords:
Bifurcation aneurysms,Coil embolization,Comaneci device,Endovascular remodeling,Wide-necked aneurysms
Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement
Author(s):
Rossi A, Simeoli C, Salerno M, Ferrigno R, Della Casa R, Colao A, Strisciuglio P, Parenti G, Pivonello R, Melis D
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Orphanet Journal of Rare Diseases v15.1
Year:
2020
ORPHAcode / other:
DOI:
10.1186/s13023-020-01377-w
Keywords:
11βHSD1,Autoimmune,Cholesterol,Cortisol,Insulin-resistance
Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic
Author(s):
Brizola E, Adami G, Baroncelli GI, Bedeschi MF, Berardi P, Boero S, Brandi ML, Casareto L, Castagnola E, Fraschini P, Gatti D, Giannini S, Gonfiantini MV, Landoni V, Magrelli A, Mantovani G, Michelis MB, Nasto LA, Panzeri L, Pianigiani E, Scopinaro A, Trespidi L, Vianello A, Zampino G, Sangiorgi L
Affiliated Institution / ERN:
ERN BOND ; AOU-Bologna ; AOUI Verona ; AOU Pisan ; Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; IRCCS Istituto Giannina Gaslini, Genova ; University Hospital of Padova ;
Condition / Disease:
Rare bone disease
Publication:
Orphanet Journal of Rare Diseases v15.1
Year:
2020
ORPHAcode / other:
ORPHA93419
DOI:
10.1186/s13023-020-01513-6
Keywords:
2019-nCoV,Bone diseases,COVID-19,Care,Coronavirus,ERN,Rare diseases,Remote
Asymmetry indicates more severe and active disease in Graves’ orbitopathy: results from a prospective cross-sectional multicentre study
Author(s):
Perros P, Žarković MP, Panagiotou GC, Azzolini C, Ayvaz G, Baldeschi L, Bartalena L, Boschi AM, Nardi M, Brix TH, Covelli D, Daumerie C, Eckstein AK, Fichter N, Ćirić S, Hegedüs L, Kahaly GJ, Konuk O, Lareida JJ, Okosieme OE, Leo M, Mathiopoulou L, Clarke L, Menconi F, Morris DS, Orgiazzi J, Pitz S, Salvi M, Muller I, Knežević M, Wiersinga WM, Currò N, Dayan CM, Marcocci C, Marinò M, Möller L, Pearce SH, Törüner F, Bernard M
Affiliated Institution / ERN:
Condition / Disease:
Graves disease
Publication:
Journal of Endocrinological Investigation v43.12 p1717-1722
Year:
2020
ORPHAcode / other:
E05.0
Safety of current recombinant human growth hormone treatments for adults with growth hormone deficiency and unmet needs
Author(s):
Höybye C, Beck-Peccoz P, Simsek S, Zabransky M, Zouater H, Stalla G, Murray RD
Affiliated Institution / ERN:
Condition / Disease:
Growth Hormone Deficiency
Publication:
Expert Opinion on Drug Safety v19.12 p1539-1548
Year:
2020
ORPHAcode / other:
ORPHA101957
DOI:
10.1080/14740338.2020.1839410
Keywords:
Growth hormone,adults,growth hormone replacement,safety
Serotonin pathway in carcinoid syndrome: Clinical, diagnostic, prognostic and therapeutic implications
Author(s):
Fanciulli G, Ruggeri RM, Grossrubatscher E, Calzo FL, Wood TD, Faggiano A, Isidori A, Colao A
Affiliated Institution / ERN:
ERN BOND ;
Condition / Disease:
Carcinoid syndrome
Publication:
Reviews in Endocrine and Metabolic Disorders v21.4 p599-612
Year:
2020
ORPHAcode / other:
ORPHA100093
DOI:
10.1007/s11154-020-09547-8
Keywords:
Analytical methods,Carcinoid syndrome,Neuroendocrine neoplasm,Serotonin pathway,Telotristat
The optimal numerosity of the referral population of pituitary tumors centers of excellence (PTCOE): A surgical perspective
Author(s):
Mortini P, Nocera G, Roncelli F, Losa M, Formenti AM, Giustina A
Affiliated Institution / ERN:
Condition / Disease:
Pituitary adenoma
Publication:
Reviews in Endocrine and Metabolic Disorders v21.4 p527-536
Year:
2020
ORPHAcode / other:
ORPHA99408
DOI:
10.1007/s11154-020-09564-7
Keywords:
Learning curve,Pituitary adenomas,Pituitary surgery,Pituitary tumor center of excellence
ENDOCRINE TUMOURS: Calcitonin in thyroid and extra-thyroid neuroendocrine neoplasms: the two-faced Janus
Author(s):
Giannetta E, Guarnotta V, Altieri B, Sciammarella C, Guadagno E, Malandrino P, Puliani G, Feola T, Isidori AM, Colao AAL, Faggiano A
Affiliated Institution / ERN:
AOUI Verona ; AOU Federico II - Naples ; ERN BOND ;
Condition / Disease:
Neuroendocrine Neoplasm
Publication:
European Journal of Endocrinology v183.6 pR197-R215
Year:
2020
ORPHAcode / other:
ORPHA877
Enfermedad de Graves con autoanticuerpos contra el receptor de la TSH negativos: a propósito de 5 casos
Author(s):
Scatti Regàs A, Pujol Borrell R, Ferrer Costa R, Puerto Carranza E, Clemente León M
Affiliated Institution / ERN:
Condition / Disease:
Paediatric-onset Graves disease
Publication:
Anales de Pediatría v93.6 p417-419
Year:
2020
ORPHAcode / other:
ORPHA525731
Procathepsin V Is Secreted in a TSH Regulated Manner from Human Thyroid Epithelial Cells and Is Accessible to an Activity-Based Probe
Author(s):
Al-Hashimi A, Venugopalan V, Rehders M, Sereesongsaeng N, Hein Z, Springer S, Weber E, Führer D, Bogyo MS, Scott CJ, Burden RE, Brix K
Affiliated Institution / ERN:
Condition / Disease:
Thyroid hormone metabolism
Publication:
International Journal of Molecular Sciences v21.23 p9140
Year:
2020
ORPHAcode / other:
DOI:
10.3390/ijms21239140
Keywords:
cysteine cathepsins,green fluorescent protein tagging,protein trafficking,secretion,thyroid epithelial cells,thyroid stimulating hormone
Hypertension in Acromegaly in Relationship to Biochemical Control and Mortality: Global ACROSTUDY Outcomes
Author(s):
Vila G, Luger A, van der Lely AJ, Neggers SJCMM, Webb SM, Biller BMK, Valluri S, Hey-Hadavi J
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ; Hospital de la Santa Creu i Sant Pau ; Medical University of Vienna,Center for Rare Endocrinologic Diseases / Dpt. of Internal Medicine III ;
Condition / Disease:
Acromegaly
Publication:
Frontiers in Endocrinology v11
Year:
2020
ORPHAcode / other:
ORPHA963
DOI:
10.3389/fendo.2020.577173
Keywords:
acromegaly,cardiovascular disease,hypertension,hypopituitarism,mortality,pegvisomant,prognosis
Risk Factors for Adverse Neurodevelopment in Transient or Persistent Congenital Hyperinsulinism
Author(s):
Roeper M, Salimi Dafsari R, Hoermann H, Mayatepek E, Kummer S, Meissner T
Affiliated Institution / ERN:
Universitätsklinikum Düsseldorf ;
Condition / Disease:
Diazoxide-sensitive diffuse hyperinsulinism
Publication:
Frontiers in Endocrinology v11
Year:
2020
ORPHAcode / other:
ORPHA165985
DOI:
10.3389/fendo.2020.580642
Keywords:
brain injury,hyperinsulinism,hypoglycemia,neurodevelopment,outcome,risk factors
The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes
Author(s):
Salma R Ali,Jillian Bryce, Li En Tan, Olaf Hiort, Alberto M Pereira,Erica L T van den Akker,Natasha M Appelman-Dijkstra,Jerome Bertherat,Martine Cools, Olaf M Dekkers,Yllka Kodra, Luca Persani, Arlene Smyth, Christopher Smythe, Domenica Taruscio and S Faisal Ahmed
Affiliated Institution / ERN:
Universitätsklinikum Schleswig-Holstein ; Leiden University Medical Center ; Erasmus MC: University Medical Center Rotterdam ; Ghent University Hospital ; IRCCS Auxologico Italian Institute - Milan ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ;
Condition / Disease:
Rare Endocrine Conditions
Publication:
International Journal of Environmental Research and Public Health Volume 17 / Issue 23 / 10.3390/ijerph17238743
Year:
2020
ORPHAcode / other:
ORPHA97978
DOI:
10.3390/ijerph17238743
Keywords:
European reference networks; databases; endocrinology; rare conditions; rare diseases; registries;
Editorial: Current Clinical and Pre-Clinical Progress in Cushing’s Disease
Author(s):
Stalla GK, Arzt E, Losa M, Renner U
Affiliated Institution / ERN:
Condition / Disease:
Cushing disease
Publication:
Frontiers in Endocrinology v11
Year:
2020
ORPHAcode / other:
ORPHA96253
DOI:
10.3389/fendo.2020.612321
Keywords:
Cushing’s disease,Cushing’s syndrome,diagnostic score,drug targets,medical therapy,quality of life
Thyroidectomy in Pediatric Patients with Graves’ Disease: A Systematic Review of Postoperative Morbidity
Author(s):
Zaat AS, Derikx JP, Zwaveling-Soonawala N, van Trotsenburg AP, Mooij CF
Affiliated Institution / ERN:
Amsterdam UMC ;
Condition / Disease:
Paediatric-onset Graves disease
Publication:
European Thyroid Journal p1-13
Year:
2020
ORPHAcode / other:
ORPHA525731
DOI:
10.1159/000511345
Keywords:
Graves' disease,Pediatric Graves' disease,Postoperative morbidity,Thyroidectomy
Fatty Acid Profile of Mature Red Blood Cell Membranes and Dietary Intake as a New Approach to Characterize Children with Overweight and Obesity
Author(s):
Jauregibeitia I, Portune K, Rica I, Tueros I, Velasco O, Grau G, Trebolazabala N, Castaño L, Larocca AV, Ferreri C, Arranz S
Affiliated Institution / ERN:
Hospital Universitario Cruces ; AOU-Bologna ;
Condition / Disease:
Childhood obesity
Publication:
Nutrients v12.11 p3446
Year:
2020
ORPHAcode / other:
5B81.00
DOI:
10.3390/nu12113446
Keywords:
childhood obesity,inflammation,membrane lipidome,omega-6 fatty acids,red blood cell
Plasma branched chain amino acids are lower in short-term profound hypothyroidism and increase in response to thyroid hormone supplementation
Author(s):
van der Boom T, Gruppen EG, Lefrandt JD, Connelly MA, Links TP, Dullaart RP
Affiliated Institution / ERN:
Condition / Disease:
Follicular thyroid carcinoma
Publication:
Scandinavian Journal of Clinical and Laboratory Investigation v80.7 p562-566
Year:
2020
ORPHAcode / other:
ORPHA146
DOI:
10.1080/00365513.2020.1804610
Keywords:
Branched chain amino acids,cardiometabolic disease,differentiated thyroid carcinoma,hypothyroidism,thyroid-stimulating hormone