Ausgabe 1/2010
Inhalt (13 Artikel)
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation
Angela Sempere, Angela Arias, Guillermo Farré, Judith García-Villoria, Pilar Rodríguez-Pombo, Lurdes R. Desviat, Begoña Merinero, Angels García-Cazorla, Maria A. Vilaseca, Antonia Ribes, Rafael Artuch, Jaume Campistol
Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation
Jytte Bieber Nielsen, Karin E. Nielsen, Flemming Güttler
A novel mutation in LMBRD1 causes the cblF defect of vitamin B12 metabolism in a Turkish patient
Susann Gailus, Terttu Suormala, Ayse Gül Malerczyk-Aktas, Mohammad R. Toliat, Tanja Wittkampf, Martin Stucki, Peter Nürnberg, Brian Fowler, Julia B. Hennermann, Frank Rutsch
A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency
Hidde H. Huidekoper, Gepke Visser, Mariëtte T. Ackermans, Hans P. Sauerwein, Frits A. Wijburg
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population
Erin M. Coffee, Laura Yerkes, Elizabeth P. Ewen, Tiffany Zee, Dean R. Tolan
Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes—possibility for newborn screening
Zoltan Lukacs, Paulina Nieves Cobos, Eugen Mengel, Ralf Hartung, Michael Beck, Marcus Deschauer, Angelika Keil, René Santer
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase
Paul Harmatz, Zi-Fan Yu, Roberto Giugliani, Ida Vanessa D. Schwartz, Nathalie Guffon, Elisa Leão Teles, M. Clara Sá Miranda, J. Edmond Wraith, Michael Beck, Laila Arash, Maurizio Scarpa, David Ketteridge, John J. Hopwood, Barbara Plecko, Robert Steiner, Chester B Whitley, Paige Kaplan, Stuart J. Swiedler, Karen Hardy, Kenneth I. Berger, Celeste Decker
Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones
Audrey Arfi, Magali Richard, Christelle Gandolphe, Daniel Scherman
Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries
Helena Hůlková, Helena Poupětová, Klaus Harzer, Pramod Mistry, Johannes M. F. G. Aerts, Milan Elleder
Disease severity in sibling pairs with type 1 Gaucher disease
Deborah Elstein, Ayelet Gellman, Gheona Altarescu, Aya Abrahamov, Irith Hadas-Halpern, Mici Phillips, Maya Margalit, Ehud Lebel, Menachem Itzchaki, Ari Zimran
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy
Megumi Tsuji, Noriko Aida, Takayuki Obata, Moyoko Tomiyasu, Noritaka Furuya, Kenji Kurosawa, Abdellatif Errami, K. Michael Gibson, Gajja S. Salomons, Cornelis Jakobs, Hitoshi Osaka
Tumoral calcinosis
Mirian C. H. Janssen, Ruud G. L. de Sévaux
Erratum to: Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias
S. W. Sauer, S. Opp, A. Haarmann, J. G. Okun, S. Kölker, M. A. Morath