Ausgabe 2/2004
Inhalt (19 Artikel)
Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements
Gregory A. Grabowski, Generoso Andria, Antonio Baldellou, Pauline E. Campbell, Joel Charrow, Ian J. Cohen, Chris M. Harris, Paige Kaplan, Eugen Mengel, Miguel Pocovi, Ashok Vellodi
Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring
Antonio Baldellou, Generoso Andria, Pauline E. Campbell, Joel Charrow, Ian J. Cohen, Gregory A. Grabowski, Chris M. Harris, Paige Kaplan, Kieran McHugh, Eugen Mengel, Ashok Vellodi
Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany
Georg F. Hoffmann, Rüdiger von Kries, Daniela Klose, Martin Lindner, Andreas Schulze, Ania C. Muntau, Wulf Röschinger, Bernhard Liebl, Ertan Mayatepek, Adelbert A. Roscher
Protein-losing gastroenteropathy and retinitis associated with cytomegalovirus infection in an immunocompetent infant: a case report
Manabu Iwanaga, Masafumi Zaitsu, Eiichi Ishii, Yoichi Nishimura, Shigeyasu Inada, Hiroka Yoshiki, Satoshi Okinami, Yuhei Hamasaki
Electro-stimulation in preterm neonates with congenital auriculo-ventricular block. Report of three cases
Thameur Rakza, Nahida Rifai, Armelle Delapintiere, Eric Magnenant, Guy Vaksmann, Michel Bonnevalle, Pierre Lequien, Laurent Storme
Premature pubarche as an indicator of how body weight influences the onset of adrenarche
Marie-Laure Charkaluk, Christine Trivin, Raja Brauner
A novel gain-of-function mutation (F821L) in the transmembrane domain of calcium-sensing receptor is a cause of severe sporadic hypoparathyroidism
Masaaki Shiohara, Tetsuo Mori, Bai Mei, Edward M. Brown, Tomoyuki Watanabe, Toshiyuki Yasuda
The outcome of childhood obesity management depends highly upon patient compliance
Christian Denzer, Eva Reithofer, Martin Wabitsch, Kurt Widhalm
The aetiology of paediatric inflammatory vulvovaginitis
Juan Cuadros, Ana Mazón, Rocío Martinez, Pilar González, Alberto Gil-Setas, Uxua Flores, Beatriz Orden, Peña Gómez-Herruz, Rosario Millan
Acute liver failure associated with Coxsackie virus B2 infection in a neonate
Michael A. Wallot, Christoph Metzger-Boddien, Marcus Auth, Johannes Kehle, Gisela Enders, Olaf Dirsch, Melanie Fiedler, Thomas Voit
Refractory bleeding following major surgery of a giant sacrococcygeal teratoma in a premature infant: successful use of recombinant factor VIIa
Monika Girisch, Ralf Rauch, Roman Carbon, Thomas Habash, Michael Hofbeck
Endoscopic laser posterior cordectomy in a newborn with bilateral vocal fold paralysis and cerebro-oculo-facio-skeletal (Pena-Shokeir II) syndrome
Joerg Kutschera, Gerhard Friedrich, Berndt Urlesberger, Ernst Eber, Wilhelm Mueller
Idiopathic CD4+ T-lymphocytopenia in a boy with Down syndrome. Report of a patient and a review of the literature
Satoko Tanaka, Masayuki Teraguchi, Masafumi Hasui, Shoichiro Taniuchi, Yumiko Ikemoto, Yohnosuke Kobayashi
Recurrent ureteric fibroepithelial polyp in a child
María José Ruíz-López, Francisco Ramírez-Garrido, Mercedes Nogueras-Ocaña, Antonio Muñoz-Hoyos, Aurelio Martín
Comparison of treatment regimens of natural surfactant preparations in neonatal respiratory distress syndrome
Robert A. Shalwitz
Comparison of treatment regimens of natural surfactant preparations in neonatal respiratory distress syndrome
George Baroutis
A boy with breathlessness, digital clubbing and central cyanosis
Sanne J. Gordijn, Paul L. P. Brand