Issue 6/2012
Content (27 Articles)
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome
Tobias B. Haack, Christine Makowski, Yoshiaki Yao, Elisabeth Graf, Maja Hempel, Thomas Wieland, Ulrike Tauer, Uwe Ahting, Johannes A. Mayr, Peter Freisinger, Hiroki Yoshimatsu, Ken Inui, Tim M. Strom, Thomas Meitinger, Atsushi Yonezawa, Holger Prokisch
Miglustat-induced intestinal carbohydrate malabsorption is due to the inhibition of α-glucosidases, but not β-galactosidases
Mahdi Amiri, Hassan Y. Naim
Sjögren–Larsson syndrome in clinical practice
Joris Fuijkschot, Thomas Theelen, Marieke M. B. Seyger, Marinette van der Graaf, Imelda J. M. de Groot, Ron A. Wevers, Ronald J. A. Wanders, Hans R. Waterham, Michèl A. A. P. Willemsen
An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia
Thomas Opladen, Georg F. Hoffmann, Nenad Blau
Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria
Oriane Leuret, Magalie Barth, Alice Kuster, Didier Eyer, Loïc de Parscau, Sylvie Odent, Brigitte Gilbert-Dussardier, François Feillet, François Labarthe
Tetrahydrobiopterin (BH4) in PKU: effect on dietary treatment, metabolic control, and quality of life
B. Ziesch, J. Weigel, A. Thiele, U. Mütze, C. Rohde, U. Ceglarek, J. Thiery, W. Kiess, S. Beblo
Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation
Raphaël Teissier, Emmanuel Nowak, Murielle Assoun, Karine Mention, Aline Cano, Alain Fouilhoux, François Feillet, Hélène Ogier, Emmanuel Oger, Loïc de Parscau
In vivo catecholaminergic metabolism in the medial prefrontal cortex of ENU2 mice: an investigation of the cortical dopamine deficit in phenylketonuria
Tiziana Pascucci, Giacomo Giacovazzo, Diego Andolina, David Conversi, Fabio Cruciani, Simona Cabib, Stefano Puglisi-Allegra
Lysine triggers apoptosis through a NADPH oxidase-dependent mechanism in human renal tubular cells
Daniela Verzola, Annamaria Famà, Barbara Villaggio, Maia Di Rocco, Alchiede Simonato, Elena D’Amato, Fabio Gianiorio, Giacomo Garibotto
Clinical variability of isovaleric acidemia in a genetically homogeneous population
M. Dercksen, M. Duran, L. IJlst, L. J. Mienie, C. J. Reinecke, J. P. N. Ruiter, H. R. Waterham, R. J. A. Wanders
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency
Philippa B. Mills, Emma J. Footitt, Serkan Ceyhan, Paula J. Waters, Cornelis Jakobs, Peter T. Clayton, Eduard A. Struys
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes
Patricia P. Jumbo-Lucioni, Kathryn Garber, John Kiel, Ivo Baric, Gerard T. Berry, Annet Bosch, Alberto Burlina, Ana Chiesa, Maria Luz Couce Pico, Sylvia C. Estrada, Howard Henderson, Nancy Leslie, Nicola Longo, Andrew A. M. Morris, Carlett Ramirez-Farias, Susanne Scheweitzer-Krantz, Catherine Lynn T. Silao, Marcela Vela-Amieva, Susan Waisbren, Judith L. Fridovich-Keil
Living situation, occupation and health-related quality of life in adult patients with classic galactosemia
Björn Hoffmann, Nico Dragano, Susanne Schweitzer-Krantz
Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation
Paul de Laat, Saskia Koene, Lambert P. W. J. van den Heuvel, Richard J. T. Rodenburg, Mirian C. H. Janssen, Jan A. M. Smeitink
Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series
Anke Thümler, Elke Miebach, Christina Lampe, Susanne Pitz, Wolfgang Kamin, Christoph Kampmann, Bianca Link, Eugen Mengel
Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts
Massimo Aureli, Rosaria Bassi, Nicoletta Loberto, Stefano Regis, Alessandro Prinetti, Vanna Chigorno, Johannes M. Aerts, Rolf G. Boot, Mirella Filocamo, Sandro Sonnino
The cognitive profile of type 1 Gaucher disease patients
Marieke Biegstraaten, Keith A. Wesnes, Cécile Luzy, Milan Petakov, Mirando Mrsic, Claus Niederau, Pilar Giraldo, Derralynn Hughes, Atul Mehta, Karl-Eugen Mengel, Carla E. M Hollak, László Maródi, Ivo N. van Schaik
Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patients
Giovanni Ciana, Laura Deroma, Anna Martina Franzil, Andrea Dardis, Bruno Bembi
Lysosomal delivery of therapeutic enzymes in cell models of Fabry disease
D. Marchesan, T. M. Cox, P. B. Deegan
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia
Caroline Michot, Laurence Hubert, Norma B. Romero, Amr Gouda, Asmaa Mamoune, Suja Mathew, Edwin Kirk, Louis Viollet, Shamima Rahman, Soumeya Bekri, Heidi Peters, James McGill, Emma Glamuzina, Michelle Farrar, Maya von der Hagen, Ian E. Alexander, Brian Kirmse, Magalie Barth, Pascal Laforet, Pascale Benlian, Arnold Munnich, Marc JeanPierre, Orly Elpeleg, Ophry Pines, Agnès Delahodde, Yves de Keyzer, Pascale de Lonlay
Adenosine, dopamine and serotonin receptors imbalance in lymphocytes of Lesch-Nyhan patients
Marta G. García, Juan G. Puig, Rosa J. Torres
Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation
Marc Engelen, Martin J. A. Schackmann, Rob Ofman, Robert-Jan Sanders, Inge M. E. Dijkstra, Sander M. Houten, Stéphane Fourcade, Aurora Pujol, Bwee Tien Poll-The, Ronald J. A. Wanders, Stephan Kemp
Cultural aspects in the management of inborn errors of metabolism
Sylvia Stockler, Dorothea Moeslinger, Marion Herle, Banu Wimmer, Osman S. Ipsiroglu
Unexpectedly low asymmetric dimethylarginine (ADMA) and homocysteine levels in patients with phenylketonuria(PKU)
Ömer Özcan, Osman Metin Ipcioglu, Mustafa Gultepe
Erratum to: Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A>G mutation
Paul de Laat, Saskia Koene, Lambert P. W. J. vd Heuvel, Richard J. T. Rodenburg, Mirian C. H. Janssen, Jan A. M. Smeitink
Erratum to: Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes
Patricia P. Jumbo-Lucioni, Kathryn Garber, John Kiel, Ivo Baric, Gerard T. Berry, Annet Bosch, Alberto Burlina, Ana Chiesa, Maria Luz Couce Pico, Sylvia C. Estrada, Howard Henderson, Nancy Leslie, Nicola Longo, Andrew A. M. Morris, Carlett Ramirez-Farias, Susanne Schweitzer-Krantz, Catherine Lynn T. Silao, Marcela Vela-Amieva, Susan Waisbren, Judith L. Fridovich-Keil