Issue 6/2011
Content (14 Articles)
Alkaptonuria in France: past experience and lessons for the future
Robert Raphael Aquaron
Collagen atomic scale molecular disorder in ochronotic cartilage from an alkaptonuria patient, observed by solid state NMR
Wing Ying Chow, Adam M. Taylor, David G. Reid, James A. Gallagher, Melinda J. Duer
Natural history of alkaptonuria revisited: analyses based on scoring systems
Lakshminarayan R. Ranganath, Trevor F. Cox
Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis
Daniela Braconi, Claretta Bianchini, Giulia Bernardini, Marcella Laschi, Lia Millucci, Adriano Spreafico, Annalisa Santucci
Cardiovascular manifestations of Alkaptonuria
Stephen J. Pettit, Michael Fisher, James A. Gallagher, Lakshminarayan R. Ranganath
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management
Elizabeth A. Braunlin, Paul R. Harmatz, Maurizio Scarpa, Beatriz Furlanetto, Christoph Kampmann, James P. Loehr, Katherine P. Ponder, William C. Roberts, Howard M. Rosenfeld, Roberto Giugliani
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy
Massimiliano Filosto, Mauro Scarpelli, Paola Tonin, Silvia Testi, Maria Sofia Cotelli, Mara Rossi, Andrea Salvi, Alberto Grottolo, Valentina Vielmi, Alice Todeschini, Gian Maria Fabrizi, Alessandro Padovani, Giuliano Tomelleri
Mitochondrial diabetes is associated with insulin resistance in subcutaneous adipose tissue but not with increased liver fat content
Markus M. Lindroos, Ronald Borra, Nina Mononen, Terho Lehtimäki, Kirsi A. Virtanen, Virva Lepomäki, Letizia Guiducci, Patricia Iozzo, Kari Majamaa, Pirjo Nuutila
Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency
Riccardo Montioli, Barbara Cellini, Carla Borri Voltattorni
Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion
Roberta Biancheri, Claudio Bruno, Denise Cassandrini, Enrico Bertini, Filippo M. Santorelli, Andrea Rossi
Erratum to: Isolated remethylation disorders: do our treatments benefit patients?
Manuel Schiff, Jean-François Benoist, Bogdana Tilea, Nicolas Royer, Stéphane Giraudier, Hélène Ogier de Baulny