Endocrine supplemental issue for Rare Disease Day 2021

Endocrine (International Journal of Basic and Clinical Endocrinology) together with Endo-ERN created a special edition for Rare Disease Day 2021, with guest editors Sebastiano Filetti, Olaf Hiort & Alberto Pereira.

Showing 24 entries

Title	Authors	MTGs	WPs
Rare endocrine disease: Still a long and a winding road	Sebastiano Filetti
Introduction to Endo-ERN–scope and mission	Pereira AM & Hiort O
Perspectives of the European Society of Endocrinology (ESE) and the European Society of Paediatric Endocrinology (ESPE) on rare endocrine disease	Hokken-Koelega A & Reincke M
Access to patient oriented information—a baseline Endo-ERN survey among patients with rare endocrine disorders	Iotova V, Schalin-Jäntti C, Bruegmann P, Broesamle M, De Graaf J, Bratina N, … Hiort O		WP1
CPMS–improving patient care in Europe via virtual case discussions	Mönig I, Steenvoorden D, de Graaf JP, Ahmed SF, Taruscio D, Beun JG, … Pereira AM		WP2
Supporting international networks through platforms for standardised data collection—the European Registries for Rare Endocrine Conditions (EuRRECa) model	Ali SR, Bryce J, Smythe C, Hytiris M, Priego AL, Appelman-Dijkstra NM, & Ahmed SF		WP2
Patients with rare endocrine conditions have corresponding views on unmet needs in clinical research	de Graaf JP, de Vries F, Dirkson A, Hiort O, Pereira AM, Korbonits M, & Cools M		WP3
Endo ERN patient survey on their perception of health care experience and of unmet needs for rare endocrine diseases	Webb SM, Kristensen J, Vitali D, van Klink S, van Beuzekom C, Santos A, & Nordenström A		WP4
Serum insulin-like factor 3 quantification by LC–MS/MS in male patients with hypogonadotropic hypogonadism and Klinefelter syndrome	Johannsen TH, Ljubicic ML, Young J, Trabado S, Petersen JH, Linneberg A, … Juul A	MTG7	WP5
Patient’s view on better care	Beun, Kristensen, Brosamle, & van den Berg
Therapy options for adrenal insufficiency and recommendations for the management of adrenal crisis	Nicole Reisch, Hanna Nowotny, Faisal Ahmed, Sophie Bensing, Johan G Beun, Manuela Brösamle, … Svetlana Lajic	MTG1
Update on primary bilateral macronodular adrenal hyperplasia (PBMAH)	Bouys L, Chiodini I, Arlt W, Reincke M, & Bertherat J	MTG1
Hypercalcemia during pregnancy: management and outcomes for mother and child	Appelman-Dijkstra NM, Ertl DA, Carola Zillikens M, Rjenmark L, & Winter EM	MTG2
Rare diseases caused by abnormal calcium sensing and signalling	Tőke J, Czirják G, Enyedi P, & Tóth M	MTG2
Alström syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity	Dassie F, Favaretto F, Bettini S, Parolin M, Valenti M, Reschke F, … Maffei P	MTG3
Collaboration for rare diabetes: understanding new treatment options for Wolfram syndrome	Reschke F, Rohayem J, Maffei P, Dassie F, Schwandt A, de Beaufort C, … Danne T	MTG3
Patients’ perception on the quality of care for multiple endocrine neoplasia disorders in Europe: an online survey from a patient support group	Drewitz KP, Grey J, Brügmann P, Pichl J, Sammarco M, Aarts M, … Schaaf L	MTG4
Molecular genetic testing strategies used in diagnostic flow for hereditary endocrine tumour syndromes	Butz H, Blair J, & Patócs A	MTG4
Clinical management of patients with genetic obesity during COVID-19 pandemic: position paper of the ESE Growth & Genetic Obesity COVID-19 Study Group and Rare Endo-ERN main thematic group on Growth and Obesity	De Groot CJ, Poitou Bernert C, Coupaye M, Clement K, Paschou SA, Charmandari E, … Van Den Akker ELT	MTG5
The clinical aspects of pituitary tumour genetics	Dénes J & Korbonits M	MTG6
Assessing the health-related management of people with differences of sex development	Jürgensen M, Rapp M, Döhnert U, Frielitz F, Ahmed F, Cools M, … Hiort O	MTG7
Endo-ERN expert opinion on the differential diagnosis of pubertal delay	Persani L, Bonomi M, Cools M, Dattani M, Dunkel L, Gravholt CH, & Juul A	MTG7
Monocarboxylate transporter 8 deficiency: update on clinical characteristics and treatment	van Geest F, Groeneweg S, & Visser E	MTG8
New genetics in congenital hypothyrodism	Stoupa A & Polak M	MTG8

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Endocrine supplemental issue for Rare Disease Day 2021

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Endocrine Conditions

Categories

About Us

Who we are

Information

For Professionals

Our Network

Research

Support Tools

Training & Education

For Members

Quick Links

Evaluation

For Patients

Patient information

ePAG information

Endocrine supplemental issue for Rare Disease Day 2021

Endo-ERN Newsletter

News

Events

Information

Social Links

Contact

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