Ausgabe 5/2001
Inhalt (18 Artikel)
Where are all the babies? Paediatric risk of mortality score in meningococcal disease
Nicholas D. Nelhans, Kentigern Thorburn, Paul B. Baines
Successful treatment of phenylketonuria with tetrahydrobiopterin
Friedrich K. Trefz, Christa Aulela-Scholz, Nenad Blau
Bartonella henselae bacteraemia in patients with cat scratch disease
Masato Tsukahara, Hidechika Iino, Chizuru Ishida, Kyoko Murakami, Hidehiro Tsuneoka, Masashi Uchida
Reference data for 4- and 5-year-old-children on the Balance Master: values and clinical feasibility
Dirk Cambier, Ann Cools, Lieven Danneels, Erik Witvrouw
Evaluation of weight gain composition during the first 2 months of life in breast- and formula-fed term infants using dual energy X-ray absorptiometry
Mario De Curtis, Catherine Pieltain, Frédéric Studzinski, Vanessa Moureau, Paul Gérard, Jacques Rigo
Neonatal screening for medium chain acyl-CoA deficiency: high incidence in Lower Saxony (northern Germany)
Stefanie Sander, Nils Janzen, Bernd Janetzky, Sabine Scholl, Ulrike Steuerwald, Jochen Schäfer, Johannes Sander
Transient renal tubular acidosis in a neonate following transplacental acetazolamide
Hidemi Ozawa, Eiichi Azuma, Keiji Shindo, Masamune Higashigawa, Rika Mukouhara, Yoshihiro Komada
Two hyperandrogenic adolescent girls with congenital portosystemic shunt
Mari Satoh, Susumu Yokoya, Yuriko Hachiya, Masahiko Hachiya, Tomoo Fujisawa, Kyoko Hoshino, Tsutomu Saji
Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency
Aleš Dudešek, Wulf Röschinger, Ania C. Muntau, Jörg Seidel, Dorothea Leupold, Beat Thöny, Nenad Blau
Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts
Boris Rapp, Johannes Häberle, Michael Linnebank, Benedicht Wermuth, Thorsten Marquardt, Erik Harms, Hans Georg Koch
Combined body plethysmographic, spirometric and flow volume reference values for male and female children aged 6 to 16 years obtained from “hospital normals”
Hermann Manzke, Ernst Stadlober, Heinz-Peter Schellauf
Severe reversible renal failure due to naproxen-associated acute interstitial nephritis
Rachel Becker-Cohen, Yaacov Frishberg
Latent coeliac disease in a child with epilepsy, cerebral calcifications, drug-induced systemic lupus erythematosus and intestinal folic acid malabsorption associated with impairment of folic acid transport across the blood-brain barrier
M. Calvani Jr, P. Parisi, C. Guaitolini, G. Parisi, G. Paolone
Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene
Andreas Zankl, Marie-Claude Addor, Pascal Cousin, Anne-Claude Gaide, François Gudinchet, Daniel F. Schorderet
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria
Dorothea Möslinger, Sylvia Stöckler-Ipsiroglu, Susanne Scheibenreiter, Monika Tiefenthaler, Adolf Mühl, Rainer Seidl, Wolfgang Strobl, Barbara Plecko, Terttu Suormala, E. Regula Baumgartner