Endo-ERN Publications Database
948 publication(s) found matching the search criteria
Child and adolescent obesity
Author(s):
Lister NB, Baur LA, Felix JF, Hill AJ, Marcus C, Reinehr T, Summerbell C, Wabitsch M
Affiliated Institution / ERN:
Ulm University Medical Center ;
Condition / Disease:
Child and adolescent obesity
Publication:
Nature Reviews Disease Primers v9.1
Year:
2023
ORPHAcode / other:
ORPHA77828
Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of the Phenotype and Implications for Insulin Resistance
Author(s):
Giacomozzi C, Martin A, Fernández MC, Gutiérrez M, Iascone M, Domené HM, Dominici FP, Bergadá I, Cangiano B, Persani L, Pennisi PA
Affiliated Institution / ERN:
AOU-Bologna ;
Condition / Disease:
growth hormone deficiency (GHD)
Publication:
The Journal of Clinical Endocrinology & Metabolism v108.6 p1355-1369
Year:
2023
ORPHAcode / other:
ORPHA101957; ORPHA95488
DOI:
10.1210/clinem/dgac738
Keywords:
IGF1 mutation,IGF1 primary insufficiency,impaired glucose tolerance,insulin resistance,short stature
Bilateral inferior petrosal sinus sampling with human CRH stimulation in ACTH-dependent Cushing’s syndrome: results from a retrospective multicenter study
Author(s):
Detomas M, Ritzel K, Nasi-Kordhishti I, Schernthaner-Reiter MH, Losa M, Tröger V, Altieri B, Kroiss M, Kickuth R, Fassnacht M, Micko A, Honegger J, Reincke M, Deutschbein T
Affiliated Institution / ERN:
University Hospital Würzburg ;
Condition / Disease:
Cushing Syndrome
Publication:
European Journal of Endocrinology v188.5 p448-456
Year:
2023
ORPHAcode / other:
ORPHA647758; ORPHA189427; ORPHA314749;
DOI:
10.1093/ejendo/lvad050
Keywords:
Catheter,Cushing’s disease,IPSS,ectopic,petrosal sinus,pituitary,prolactin
Individuals with numerical and structural variations of sex chromosomes: interdisciplinary management with focus on fertility potential
Author(s):
Juul A, Gravholt CH, De Vos M, Koledova E, Cools M
Affiliated Institution / ERN:
Aarhus University Hospital ;
Condition / Disease:
DSD
Publication:
Frontiers in Endocrinology v14
Year:
2023
ORPHAcode / other:
ORPHA325546
DOI:
10.3389/fendo.2023.1160884
Keywords:
DSD,Klinefelter syndrome,NSVSC,Turner syndrome,sex chromosomes
Immune checkpoint inhibitor-related thyroid dysfunction
Author(s):
Illouz F, Briet C, Rodien P
Affiliated Institution / ERN:
CHU d'Angers ;
Condition / Disease:
Immune checkpoint inhibitor-related thyroid dysfunction
Publication:
Annales d'Endocrinologie v84.3 p346-350
Year:
2023
ORPHAcode / other:
DOI:
10.1016/j.ando.2023.03.005
Keywords:
Dysfonction thyroïdienne,Hypothyroidism,Hypothyroïdie,Immune checkpoint inhibitors,Inhibiteurs des points de contrôle immunitaire,Thyroid dysfunction,Thyroiditis,Thyrotoxicose,Thyrotoxicosis,Thyroïdite
Characterization of lymphocyte profiles in children with syndromic obesity
Author(s):
Dieme A, André S, Lapillonne H, Tounian P, Clément K, Dubern B
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
Syndromic Genetic Obesity
Publication:
Archives de Pédiatrie v30.4 p212-218
Year:
2023
ORPHAcode / other:
ORPHA240371
DOI:
10.1016/j.arcped.2023.02.009
Keywords:
Adipose tissue,Childhood obesity,Immunology,Inflammation
Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark: a retrospective, population-based study
Author(s):
Berglund A, Ornstrup MJ, Lind-Holst M, Dunø M, Bækvad-Hansen M, Juul A, Borch L, Jørgensen N, Rasmussen ÃK, Andersen M, Main KM, Hansen D, Gravholt CH
Affiliated Institution / ERN:
Aarhus University Hospital ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
The Lancet Regional Health - Europe v28 p100598
Year:
2023
ORPHAcode / other:
ORPHA418
DOI:
10.1016/j.lanepe.2023.100598
Keywords:
Congenital adrenal hyperplasia,Diagnosis age,Epidemiology,Incidence,Prevalence
Novel therapeutics in rare genetic obesities: A narrative review
Author(s):
Dubern B, Faccioli N, Poitou C, Clément K
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
obesity associated with defect in leptin/melanocortin pathway
Publication:
Pharmacological Research v191 p106763
Year:
2023
ORPHAcode / other:
ORPHA77828
DOI:
10.1016/j.phrs.2023.106763
Keywords:
Childhood obesity,Genetics,Hypothalamus,Melanocortins,Monogenic obesity
Integrated safety and efficacy analysis of dasiglucagon for the treatment of severe hypoglycaemia in individuals with type 1 diabetes
Author(s):
Heller S, Battelino T, Bailey TS, Pieber TR, Hövelmann U, Plum‐Mörschel L, Melgaard AE, Aronson R, DiMeglio LA, Johansen T, Danne T
Affiliated Institution / ERN:
University Medical Centre Ljubljana ;
Condition / Disease:
Diabetes mellitus
Publication:
Diabetes, Obesity and Metabolism v25.5 p1351-1360
Year:
2023
ORPHAcode / other:
Adipose tissue function and insulin sensitivity in syndromic obesity of Bardet-Biedl syndrome
Author(s):
Baig S, Wanninayake S, Foggensteiner L, Elhassan YS, Manolopoulos K, Ali S, Lassen PB, Clément K, Steeds RP, Tomlinson JW, Geberhiwot T
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
BBS
Publication:
International Journal of Obesity v47.5 p382-390
Year:
2023
ORPHAcode / other:
ORPHA110
João Raposo: moving beyond recommendations and guidelines
Author(s):
Burki T
Affiliated Institution / ERN:
APDP – Diabetes Portugal ;
Condition / Disease:
diabetes and behaviour
Publication:
The Lancet Diabetes & Endocrinology v11.5 p313
Year:
2023
ORPHAcode / other:
Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants
Author(s):
Taïeb D, Wanna GB, Ahmad M, Lussey-Lepoutre C, Perrier ND, Nölting S, Amar L, Timmers HJLM, Schwam ZG, Estrera AL, Lim M, Pollom EL, Vitzthum L, Bourdeau I, Casey RT, Castinetti F, Clifton-Bligh R, Corssmit EPM, de Krijger RR, Del Rivero J, Eisenhofer G, Ghayee HK, Gimenez-Roqueplo A, Grossman A, Imperiale A, Jansen JC, Jha A, Kerstens MN, Kunst HPM, Liu JK, Maher ER, Marchioni D, Mercado-Asis LB, Mete O, Naruse M, Nilubol N, Pandit-Taskar N, Sebag F, Tanabe A, Widimsky J, Meuter L, Lenders JWM, Pacak K
Affiliated Institution / ERN:
University Medical Center Groningen ;
Condition / Disease:
Phaeochromocytoma and paraganglioma
Publication:
The Lancet Diabetes & Endocrinology v11.5 p345-361
Year:
2023
ORPHAcode / other:
ORPHA276621
Transition for adolescents with a rare disease: results of a nationwide German project
Author(s):
Grasemann C, Höppner J, Burgard P, Schündeln MM, Matar N, Müller G, Krude H, Berner R, Lee-Kirsch MA, Hauck F, Wainwright K, Baumgarten S, Atinga J, Bauer JJ, Manka E, Körholz J, Kiewert C, Heinen A, Kretschmer T, Kurth T, Mittnacht J, Schramm C, Klein C, Graessner H, Hiort O, Muntau AC, Grüters A, Hoffmann GF, Choukair D
Affiliated Institution / ERN:
Charité Universitätsmedizin Berlin ;
Condition / Disease:
transition of care, rare diseases
Publication:
Orphanet Journal of Rare Diseases v18.1
Year:
2023
ORPHAcode / other:
DOI:
10.1186/s13023-023-02698-2
Keywords:
Adolescent health,Empowerment,Health literacy,Pathway,Rare disease,Transition
Increase of jump performance during GH treatment in short children born SGA
Author(s):
Schweizer R, Martin DD, Binder G
Affiliated Institution / ERN:
Universitätsklinikum Tübingen ;
Condition / Disease:
growth hormone deficiency (GHD)
Publication:
Frontiers in Endocrinology v14
Year:
2023
ORPHAcode / other:
ORPHA631; ORPHA101957
DOI:
10.3389/fendo.2023.1122287
Keywords:
children,growth hormone treatment (GH),jumping mechanography,muscle function,muscle power,peak jump force,small for gestation age (SGA)
Unusual causes of hyperthyrotropinemia and differential diagnosis of primary hypothyroidism: a revised diagnostic flowchart
Author(s):
Campi I, Dell’Acqua M, Stellaria Grassi E, Cristina Vigone M, Persani L
Affiliated Institution / ERN:
San Raffaele hospital - Milan ;
Condition / Disease:
Resistance to thyroid hormone
Publication:
European Thyroid Journal v12.4
Year:
2023
ORPHAcode / other:
ORPHA596426
DOI:
10.1530/etj-23-0012
Keywords:
TSH,assay artifacts,consumptive hypothyroidism,deiodinases,hypothyroidism,macro-TSH,malabsorption,resistance to TSH
Cushing’s syndrome in the elderly: data from the European Registry on Cushing’s syndrome
Author(s):
Amodru V, Ferriere A, Tabarin A, Castinetti F, Tsagarakis S, Toth M, Feelders RA, Webb SM, Reincke M, Netea-Maier R, Kastelan D, Elenkova A, Maiter D, Ragnarsson O, Santos A, Valassi E, Amaral C, Ambrogio A, Aranda G, Arosio M, Balomenaki M, Berr-Kirmair C, Bertherat J, Bolanowski M, Bollerslev J, Cardoso H, Carvalho D, Cavagnini F, Ceccato P, Chabre O, Chanson P, Christ E, Demtröder Zentrum fur Endokrinologie F, Denes J, Deutschbein T, Dimopoulou C, Dreval A, Droste M, Duarte JS, Dusek T, Ertürk E, Evang JA, Fajardo C, Fazel J, Feelders RA, Fica S, García-Centeno R, Ghigo E, Goth M, Godlewska M, Greenman Y, Halperin I, Hanzu FA, Hermus A, Johannsson G, Hubina E, Januszewska A, Kamenicky P, Kasperlik-Zaluska A, Kirchner J, Kastelan D, Komerdus I, Kraljevic I, Krsek M, Kruszynska A, Lamas C, Lambrescu I, Lang S, Luger A, Maiter D, Marpole N, Martin S, Martinie M, Martins Oliveira MJ, Moros O, Netea-Maier R, Newell-Price J, Orbetzova M, Paiva I, Pecori Giraldi F, Percovich JC, Pereira AM, Pfeifer M, Pickel J, Pirags V, Ragnarsson O, Reghina AD, Reincke M, Riesgo P, Roberts M, Roerink S, Roig O, Rowan C, Rudenko P, Salvador J, Santos A, Scaroni C, Sigurjonsdottir HA, Skoric Polovina T, Smith R, Stachowska B, Stalla G, Strasburger C, Tabarin A, Terzolo M, Tőke J, Tóth M, Touraine P, Trainer PJ, Tsagarakis S, Valassi E, Vila G, Vinay S, Wagenmakers M, Werner S, Young J, Zdunowski P, Zopf K, Zopp S, Zosin I
Affiliated Institution / ERN:
University Hospitals Saint-Luc ; Semmelweis University ; Hospital de la Santa Creu i Sant Pau ; Evangelismos General Hospital ;
Condition / Disease:
Cushing's syndrome
Publication:
European Journal of Endocrinology v188.4 p395-406
Year:
2023
ORPHAcode / other:
ORPHA96253; ORPHA647758; ORPHA189427; ORPHA314749;
Skin manifestations in rare types of diabetes and other endocrine conditions
Author(s):
Reschke F, Biester T, von dem Berge T, Jamiolkowski D, Hasse L, Dassie F, Maffei P, Klee K, Kordonouri O, Ott H, Danne T
Affiliated Institution / ERN:
Hannoversche Kinderheilanstalt ;
Condition / Disease:
rare diabetes
Publication:
Endocrine Connections v12.7
Year:
2023
ORPHAcode / other:
ORPHA101952
DOI:
10.1530/ec-22-0410
Keywords:
cutaneous effects of rare diabetes,rare dermatologic changes in endocrine disorders,rare endocrinopathies,rare types of diabetes
Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia
Author(s):
Hasenmajer V, Ferrigno R, Minnetti M, Pellegrini B, Isidori AM, Lenzi A, Salerno M, Cappa M, Chan L, De Martino MC, Savage MO
Affiliated Institution / ERN:
Condition / Disease:
genetic paediatric adrenal insufficiency
Publication:
Reviews in Endocrine and Metabolic Disorders v24.2 p345-363
Year:
2023
ORPHAcode / other:
ORPHA101958;ORPHA101959; ORPHA101960; ORPHA418; ORPHA869;
DOI:
10.1007/s11154-023-09784-7
Keywords:
Addison,Adrenal insufficiency,Adrenoleukodystrophy,Aldosteron,Aldosterone Synthase,Allgrove syndrome,Cortisol,Familial glucocorticoid deficiency,Intrauterine growth retardation syndromes,Pseudohypoaldosteronism,Steroidogenesis,Triple A syndrome
The impact of different calibration matrices on the determination of insulin-like growth factor 1 by high-resolution-LC-MS in acromegalic and growth hormone deficient patients
Author(s):
Simstich S, Züllig T, D'Aurizio F, Biasotto A, Colao A, Isidori AM, Lenzi A, Fauler G, Köfeler HC, Curcio F, Herrmann M
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
acromegaly and GH deficiency
Publication:
Clinical Biochemistry v114 p95-102
Year:
2023
ORPHAcode / other:
ORPHA963
DOI:
10.1016/j.clinbiochem.2023.02.008
Keywords:
Hormone,Insulin-like Growth Factor 1 (IGF-1),Liquid Chromatography High-Resolution Mass Spectrometry (LC-HRMS),Online Solid Phase Extraction (OSPE),Peptide,Quantification,Serum
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome
Author(s):
Leiding JW, Vogel TP, Santarlas VG, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O’Sullivan M, Pachlopnik Schmid J, Průhová Å, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A, Aleshkevich S, Allende LM, Atkinson TP, Atschekzei F, Aydemir S, Aygunes U, Barlogis V, Baumann U, Belko J, Bezrodnik L, Biebl A, Broderick L, Bunin NJ, Caldirola MS, Castelle M, Celmeli F, Charbonnier L, Chatila TA, Chellapandian D, Cokugras H, Conlon N, Cox F, Crickx E, Dalgic B, ASH Dalm V, Danielian S, Dominguez-Pinilla N, Dujovny T, Ebbo M, Eken A, Esty B, Fabre A, Fischer A, Hannibal M, Huppert L, Ikeda MD, Jolles S, Jolly KW, Jones N, Kanariou M, Karakoc-Aydiner E, Karamantziani T, Kelaidi C, Keogan M, Pac Kisaarslan A, Kiykim A, Klocperk A, Kotsonis K, Kuzmenko N, Leroy S, Lianou D, Longhurst H, Lorenz MR, Maffucci P, Manson A, Marchal S, Malphettes M, Marega LF, Mauracher AA, Meesilpavikai K, Miller H, Mombourquette J, Morgan NG, Mukhina A, Nathalie A, Nelken B, Nolan D, Norlin A, Oleastro M, Ozcan A, Pasquet M, Pegler JR, Picard C, Polychronopoulou S, Quartier P, Quesada JF, Ramakers J, Randall KL, Rao VK, Remiker A, Resin G, Richmond P, Rieux-Laucat F, Rodina Y, Rohrlich P, Sachs J, Sakovich I, Santarlas C, Sari S, Sawicki G, Schauer U, Scheffler Mendoza SC, Schvetz O, Schmidt RE, Schwarz K, Sediva A, Sinclair K, Slatter M, Sleasman J, Stergiou K, Suratannon N, Tanita K, Thompson G, Travis S, Trojan T, Tsinti M, Unal E, Urdinez L, Vazquez-Gomez F, Villa M, Weinrich M, Weiss MJ, Wright B, Yilmaz E, Zachova R, Zhang Y, Seppänen MR, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR
Affiliated Institution / ERN:
Motol and Homolka University Hospital ; AOU-Bologna ;
Condition / Disease:
monogenic autoimmunity
Publication:
Journal of Allergy and Clinical Immunology v151.4 p1081-1095
Year:
2023
ORPHAcode / other:
ORPHA438159
DOI:
10.1016/j.jaci.2022.09.002
Keywords:
STAT3,autoimmunity,cytopenia,gain of function,immune dysregulation,immunodeficiency,lymphoproliferation,precision medicine
Arginine‐stimulated copeptin in children and adolescents
Author(s):
Binder G, Weber K, Peter A, Schweizer R
Affiliated Institution / ERN:
Universitätsklinikum Tübingen ;
Condition / Disease:
AVP deficiency
Publication:
Clinical Endocrinology v98.4 p548-553
Year:
2023
ORPHAcode / other:
ORPHA101957; ORPHA30925;
DOI:
10.1111/cen.14880
Keywords:
arginine,central diabetes insipidus,copeptin,polydipsia,polyuria,short stature
Normal bone density but altered geometry in girls with Turner syndrome
Author(s):
Schweizer R, Mayer J, Binder G
Affiliated Institution / ERN:
Universitätsklinikum Tübingen ;
Condition / Disease:
Turner syndrome
Publication:
Journal of Pediatric Endocrinology and Metabolism v36.3 p270-277
Year:
2023
ORPHAcode / other:
ORPHA:881
DOI:
10.1515/jpem-2022-0516
Keywords:
SHOX deficiency,Turner syndrome,bone development,muscle,osteoporosis
Treatment burden, adherence, and quality of life in children with daily GH treatment in France
Author(s):
Coutant R, Tauber M, Demaret B, Henocque R, Brault Y, Montestruc F, Chassany O, Polak M
Affiliated Institution / ERN:
CHU d'Angers ;
Condition / Disease:
Publication:
Endocrine Connections Volume 12: Issue 4
Year:
2023
ORPHAcode / other:
Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: A cross-sectional analysis from the Global HPP Registry
Author(s):
Dahir KM, Kishnani PS, Martos-Moreno GÃ, Linglart A, Petryk A, Rockman-Greenberg C, Martel SE, Ozono K, Högler W, Seefried L
Affiliated Institution / ERN:
Hôpital Bicêtre ;
Condition / Disease:
Hypophosphatasia
Publication:
Frontiers in Endocrinology v14
Year:
2023
ORPHAcode / other:
ORPHA436
DOI:
10.3389/fendo.2023.1138599
Keywords:
6MWT,SF-36,alkaline phosphatase,fracture,health-related quality of life,mobility,pseudofracture,rare diseases
Model-Informed Target Morning 17α-Hydroxyprogesterone Concentrations in Dried Blood Spots for Pediatric Congenital Adrenal Hyperplasia Patients
Author(s):
Stachanow V, Neumann U, Blankenstein O, Alder-Baerens N, Bindellini D, Hindmarsh P, Ross RJ, Whitaker MJ, Melin J, Huisinga W, Michelet R, Kloft C
Affiliated Institution / ERN:
Charité Universitätsmedizin Berlin ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
Pharmaceuticals v16.3 p464
Year:
2023
ORPHAcode / other:
ORPHA418
DOI:
10.3390/ph16030464
Keywords:
17α-hydroxyprogesterone,congenital adrenal hyperplasia,dried blood spots,pediatrics,pharmacometrics,target concentration range
Lipocalin 2 – mutation screen and serum levels in patients with anorexia nervosa or obesity and in lean individuals
Author(s):
Zheng Y, Rajcsanyi LS, Kowalczyk M, Giuranna J, Herpertz-Dahlmann B, Seitz J, de Zwaan M, Herzog W, Ehrlich S, Zipfel S, Giel K, Egberts K, Burghardt R, Föcker M, Al-Lahham S, Hebebrand J, Fuhrer D, Tan S, Zwanziger D, Peters T, Hinney A
Affiliated Institution / ERN:
University Hospital Essen ;
Condition / Disease:
lipocalin 2; Non-Syndromic Genetic Obesity
Publication:
Frontiers in Endocrinology v14
Year:
2023
ORPHAcode / other:
ORPHA179490
DOI:
10.3389/fendo.2023.1137308
Keywords:
Energy homeostasis,GWAS,bone marrow,lean body mass (LBM),secondary structure of protein
Recent advances in understanding and managing pituitary adenomas
Author(s):
Markou M, Lavrentaki A, Ntali G
Affiliated Institution / ERN:
Evangelismos General Hospital ;
Condition / Disease:
pituitary adenomas
Publication:
Faculty Reviews v12
Year:
2023
ORPHAcode / other:
ORPHA99408
DOI:
10.12703/r/12-6
Keywords:
Pituitary adenomas,medical treatment,radiotherapy,targeted systemic treatment,transsphenoidal neurosurgery,tumorigenesis
Editorial: Genetic, epigenetic and molecular landscaping of puberty
Author(s):
Howard SR, Fanis P, Nicolaides NC, Grandone A
Affiliated Institution / ERN:
Cyprus Institute of Neurology and Genetics ;
Condition / Disease:
Puberty
Publication:
Frontiers in Endocrinology v14
Year:
2023
ORPHAcode / other:
DOI:
10.3389/fendo.2023.1178888
Keywords:
Klinefelter syndrome,central precocious puberty (CPP),congenital hypogonadotropic hypogonadism,delayed puberty onset,epigenetics,puberty
Inflammation-based scores as predictors of treatment response in advanced adrenocortical carcinoma
Author(s):
Alessandra Mangone, Barbara Altieri, Mario Detomas, Alessandro Prete, Haider Abbas, Miriam Asia, Yasir S Elhassan, Giovanna Mantovani, Cristina L Ronchi
Affiliated Institution / ERN:
Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; University Hospital Würzburg ;
Condition / Disease:
Adrenocortical carcinoma (ACC)
Publication:
Endocrine-Related Cancer Volume 30: Issue 4
Year:
2023
ORPHAcode / other:
ORPHA1501
DOI:
10.1530/ERC-22-0372
Keywords:
EDP; adrenal cancer, chemotherapy, mitotane, neutrophil–lymphocyte ratio, platinum, prognosis
Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growth
Author(s):
Hughes AE, De Franco E, Freathy RM, Flanagan SE, Hattersley AT
Affiliated Institution / ERN:
Motol and Homolka University Hospital ;
Condition / Disease:
neonatal diabetes
Publication:
Journal of Clinical Investigation v133.6
Year:
2023
ORPHAcode / other:
ORPHA183625; ORPHA101952