Ausgabe 1/2009
Inhalt (29 Artikel)
Progressive familial intrahepatic cholestasis
Anne Davit-Spraul, Emmanuel Gonzales, Christiane Baussan, Emmanuel Jacquemin
Distal Xq duplication and functional Xq disomy
Damien Sanlaville, Caroline Schluth-Bolard, Catherine Turleau
Orodental phenotype and genotype findings in all subtypes of hypophosphatasia
Amélie Reibel, Marie-Cécile Manière, François Clauss, Dominique Droz, Yves Alembik, Etienne Mornet, Agnès Bloch-Zupan
Pulmonary hemorrhage syndrome associated with dengue fever, High-resolution computed tomography findings: a case report
Edson Marchiori, José LuizN Ferreira, Carolina N Bittencourt, César AdeAraújo Neto, Gláucia Zanetti, Cláudia M Mano, Alair ASD Santos, Alberto D Vianna
Early treatment with noninvasive positive pressure ventilation prolongs survival in Amyotrophic Lateral Sclerosis patients with nocturnal respiratory insufficiency
Pierluigi Carratù, Lucia Spicuzza, Anna Cassano, Mauro Maniscalco, Felice Gadaleta, Donato Lacedonia, Cristina Scoditti, Ester Boniello, Giuseppe Di Maria, Onofrio Resta
Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report
Sabri Denden, Michele Zorzetto, Fethi Amri, Jalel Knani, Stefania Ottaviani, Roberta Scabini, Marina Gorrini, Ilaria Ferrarotti, Ilaria Campo, Jemni Ben Chibani, Amel Haj Khelil, Maurizio Luisetti
Multisegmental spondylitis due to Tropheryma whipplei: Case report
David Spoerl, Diego Bär, Julian Cooper, Thomas Vogt, Alan Tyndall, Ulrich A Walker
Cardiac magnetic resonance imaging in Alström syndrome
Margaret A Loudon, Nicholas G Bellenger, Catherine M Carey, Richard B Paisey
Pulmonary involvement in Kaposi sarcoma: correlation between imaging and pathology
Taisa Davaus Gasparetto, Edson Marchiori, Sílvia Lourenço, Gláucia Zanetti, Alberto Domingues Vianna, Alair ASMD Santos, Luiz Felipe Nobre
Arterial tortuosity syndrome in two Italian paediatric patients
Marco Ritelli, Bruno Drera, Mariano Vicchio, Giovanni Puppini, Paolo Biban, Mara Pilati, Maria Antonia Prioli, Sergio Barlati, Marina Colombi
Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring
Björn Hoffmann
The Exstrophy-epispadias complex
Anne-Karoline Ebert, Heiko Reutter, Michael Ludwig, Wolfgang H Rösch
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients
Bruno Drera, Marco Ritelli, Nicoletta Zoppi, Anita Wischmeijer, Maria Gnoli, Rossella Fattori, Pier Giacomo Calzavara-Pinton, Sergio Barlati, Marina Colombi
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports
Laura Bernardini, Stefania Gimelli, Cristina Gervasini, Massimo Carella, Anwar Baban, Giada Frontino, Giancarlo Barbano, Maria Teresa Divizia, Luigi Fedele, Antonio Novelli, Frédérique Béna, Faustina Lalatta, Monica Miozzo, Bruno Dallapiccola
Incidence and classification of pediatric diffuse parenchymal lung diseases in Germany
Matthias Griese, Melanie Haug, Frank Brasch, Achim Freihorst, Peter Lohse, Rüdiger von Kries, Theodor Zimmermann, Dominik Hartl
No difference in between-country variability in use of newly approved orphan and non- orphan medicinal products - a pilot study
Pieter Stolk, Harald E Heemstra, Hubert GM Leufkens, Brigitte Bloechl-Daum, Eibert R Heerdink
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report
David Cassiman, Renate Zeevaert, Elisabeth Holme, Eli-Anne Kvittingen, Jaak Jaeken
SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance
David N Douda, Nicole Farmakovski, Sharon Dell, Hartmut Grasemann, Nades Palaniyar