Proceedings World Day of Rare Diseases 2021 / Selected Proceedings EAGEN Postgraduate Course on Gastrointestinal Rare Diseases 2020

Editorial

The need for continuous medical training in the field of rare diseases

Dan L. Dumitrascu

S7-S7

Articles

Screening for hereditary transthyretin amyloidosis in Bulgaria

Radislav Nakov, Ventsislav Nakov, Mariana Gospodinova, Tihomir Todorov, Albena Todorova, Teodora Chamova, Ivailo Tournev

S8-S10

Transthyretin cardiac amyloidosis

Raluca Tomoaia, Ruxandra Beyer, Simona Manole, Alina Chirilă, Alexandra Dădârlat-Pop, Ioan Alexandru Minciună, Dana Pop

S11-S14

Genetic testing in pediatric endocrine pathology

Diana Miclea, Camelia Alkhzouz, Simona Bucerzan, Paula Grigorescu-Sido

S15-S18

Current status of cardiac manifestations in Fabry Disease and their treatment

Dan Radulescu, Elena Buzdugan, Lauretiu Stoicescu, Alin Grosu, Maria L Radulescu

S19-S21

Diagnostic, treatment and outcome possibilities in achondroplasia

Simona Bucerzan, Camelia Alkhzouz, Mirela Crisan, Diana Miclea, Carmen Asavoaie, Roxana Ilies, Paula Grigorescu-Sido

S22-S24

Cardiovascular manifestations in Marfan syndrome

Cecilia Lazea, Simona Bucerzan, Mirela Crisan, Camelia Al-Khzouz, Diana Miclea, Crina Șufană, Gabriel Cismaru, Paula Grigorescu-Sido

S25-S25

Diagnosis and treatment of uveitis associated with juvenile idiopathic arthritis

Călin Lazăr, Mihaela Spîrchez, Mariana Ștefan, Denisa Predețeanu, Simona Nicoară, Mirela Crișan, Oana Man

S28-S32

Frontonasal glioma – diagnostic difficulties

Daniela Iacob, Otilia Fufezan, Roxana Popa-Stănilă, Mirela Topoe

S33-S35

Challenges in the diagnosis and management of urea cycle disorders in Romanian children

Tudor Lucian Pop, Alina Grama, Diana Miclea, Romana Vulturar, Gabriel Benţa, Mădălina Grigore, Claudia Simu

S36-S39

Alveolar proteinosis - an underdiagnosed condition in young people

Ana Florica Chiș, Milena Adina Man, Bogdan Augustin Chiș, Carmen Monica Pop

S40-S42

Early clinical signs in lysosomal diseases

Camelia Alkhzouz, Diana Miclea, Simona Bucerzan, Cecilia Lazea, Ioana Nascu, Paula Grigorescu Sido

S43-S46

Zinner syndrome – case report

Valentin Militaru, Zoltan Attila Mihaly, Catalin Ilea, Mihaela Coman, Mihaela Stanciu, Nicolae Crisan, Ioan Coman

S47-S50

Gaucher disease – therapeutic aspects in Romania

Bogdan Augustin Chis, Ana Florica Chis, Dan Lucian Dumitrascu

S51-S53

Gaucher disease: an update

Dan L. Dumitrascu

S54-S56

Gaucher disease type 1: the first experience of enzyme replacement therapy in pediatric practice in Moldova - case report

Natalia Ușurelu, Daniela Blăniță, Chiril Boiciuc, Victoria Hlistun, Vladimir Egorov, Eugen Popovici, Elena Gnatcova, Adela Stamati, Ana Oglindă, Ninel Revenco, Sergiu Gladun, Valentin Țurea

S57-S60