Issue 4/2015 / Numer 4/2015
CONTENTS ---> SPIS TREŚCI
issue in english
Why the rare diseases become to be a challenge for medicine of today?
Janusz Limon
Dwarfism in art
Monika Bekiesińska-Figatowska
Imaging in the diagnosis of rare diseases
Katarzyna Wertheim-Tysarowska, Monika Gos, Jolanta Sykut-Cegielska, Jerzy Bal
Genetic analysis in inherited metabolic disorders – from diagnosis to treatment. Own experience, current state of knowledge and perspectives
Krzysztof Szczałuba, Robert Śmigiel
Novel cytogenetic and molecular techniques in the diagnosis of congenital anomalies in newborns
Martin Magner, Hana Kolářová, Tomáš Honzík, Ivana Švandová, Jiří Zeman
Clinical manifestation of mitochondrial diseases
Karolina M. Stępień, Mark Roberts, Christian J. Hendriksz
Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency – diagnostic difficulties and own experience in multidisciplinary management
Elżbieta Szczepanik, Iwona Terczyńska, Małgorzata Kruk, Agata Lipiec, Ewa Dudko, Jolanta Tryfon, Marta Jurek, Dorota Hoffman-Zacharska
Glucose transporter type 1 deficiency due to SLC2A1 gene mutations – a rare but treatable cause of metabolic epilepsy and extrapyramidal movement disorder; own experience and literature review
Elżbieta Wojtyńska, Bohdan Bączkowski, Dorota Przybyłowska, Mariusz Cierech, Elżbieta Mierzwińska-Nastalska, Małgorzata Zadurska
A multidisciplinary treatment of patients with craniofacial disorders. Own experience
Dorota Cudziło, Magdalena Tomasz, Maja Matthews-Kozanecka, Monika Bekiesińska-Figatowska
Occluso-facial manifestations in a child with the Rasmussen syndrome and intercurrent Lyme disease - a case report
Anna Janas, Piotr Osica
Dental issues in Rett syndrome
Jolanta Sykut-Cegielska
Advances in treatment of Rett syndrome
Agata Tuczyńska, Dariusz Bartosik, Yasmin Abu-Fillat, Anna Sołtysik, Teresa Matthews-Brzozowska
Compound odontoma in the mandible – case study and literature review
Teresa Matthews-Brzozowska, Joanna Baranowska, Piotr Rogiński, Ewa Obersztyn, Dorota Cudziło
Malocclusions and craniofacial anomalies in a child with velo-cardio-facial syndrome
Piotr Osica, Anna Janas
Dental problems in a patient with the classic type of Ehlers-Danlos syndrome - a case report
Bogumił Lewandowski, Katarzyna Martula-Gala, Robert Brodowski, Barbara Zych
Multiple, supernumerary retained teeth in the course of cleido-cranial dysplasia. A case report
Jolanta Sykut-Cegielska
Alkaptonuria – first inborn error of metabolism known for a century and new treatment option – preliminary report
Jolanta Wierzba, Maria Mazurkiewicz-Bełdzińska, Joanna Jabłońska-Brudło, Piotr Potaż, Piotr Banach
Challenges of caring for a patient with a rare disease - as demonstrated by Cornelia de Lange Syndrome
Anna Binkiewicz-Glińska, Katarzyna Ruckemann-Dziurdzińska
Pediatric rehabilitation in children with rare diseases – preliminary report
Joanna Taybert
Procreation in families with inborn error of metabolism – new challenges for medical care
Karolina M. Stępień, Christian J. Hendriksz
The principles of the transition process from paediatric to adult services in inborn errors of metabolism - own experience
Krzysztof Borski
Economic aspects of rare diseases
Krzysztof Borski
Ethical issues in rare diseases
Aleksandra Jezela-Stanek, Dorota Karczmarewicz, Krystyna H. Chrzanowska, Małgorzata Krajewska-Walasek
Polish activity within Orphanet Europe - state of art of database and services
