Issue 5/2013
Content (24 Articles)
Chronic administration of branched-chain amino acids impairs spatial memory and increases brain-derived neurotrophic factor in a rat model
Giselli Scaini, Clarissa M. Comim, Giovanna M. T. Oliveira, Matheus A. B. Pasquali, João Quevedo, Daniel P. Gelain, José Cláudio F. Moreira, Patrícia F. Schuck, Gustavo C. Ferreira, Maurício R. Bogo, Emilio L. Streck
Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia
Lorena Gallego-Villar, Celia Pérez-Cerdá, Belén Pérez, David Abia, Magdalena Ugarte, Eva Richard, Lourdes R. Desviat
Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis
Ann Bowron, Robert Frost, Vicki E. C. Powers, Paul H. Thomas, Simon J. R. Heales, Colin G. Steward
Chronic kidney disease in adolescent and adult patients with phenylketonuria
Julia B. Hennermann, Sylvia Roloff, Jutta Gellermann, Ilka Vollmer, Elke Windt, Barbara Vetter, Ursula Plöckinger, Eberhard Mönch, Uwe Querfeld
Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta-analysis
Christopher J. Fonnesbeck, Melissa L. McPheeters, Shanthi Krishnaswami, Mary Louise Lindegren, Tyler Reimschisel
Health-related quality of life in children and adolescents with phenylketonuria: unimpaired HRQoL in patients but feared school failure in parents
Eva Thimm, Lisa Elena Schmidt, Katrin Heldt, Ute Spiekerkoetter
Fumarylacetoacetate inhibits the initial step of the base excision repair pathway: implication for the pathogenesis of tyrosinemia type I
Yngve T. Bliksrud, Amund Ellingsen, Magnar Bjørås
The male reproductive system in classic galactosemia: cryptorchidism and low semen volume
Cynthia S. Gubbels, Corrine K. Welt, John C. M. Dumoulin, Simon G. F. Robben, Catherine M. Gordon, Gerard A. J. Dunselman, M. Estela Rubio-Gozalbo, Gerard T. Berry
Muscle fiber-type distribution, fiber-type-specific damage, and the Pompe disease phenotype
L. E. M. van den Berg, M. R. Drost, G. Schaart, J. de Laat, P. A. van Doorn, A. T. van der Ploeg, A. J. J. Reuser
Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients
Julien Baruteau, Philippe Sachs, Pierre Broué, Michèle Brivet, Hendy Abdoul, Christine Vianey-Saban, Hélène Ogier de Baulny
Antenatal manifestations of mitochondrial disorders
Mariana Vide Tavares, Maria João Santos, Ana Patrícia Domingues, João Pratas, Cândida Mendes, Marta Simões, Paulo Moura, Luísa Diogo, Manuela Grazina
Clinical and biochemical features associated with BCS1L mutation
Mohammed Al-Owain, Dilek Colak, Albandary Albakheet, Banan Al-Younes, Zainab Al-Humaidi, Moeen Al-Sayed, Hindi Al-Hindi, Abdulaziz Al-Sugair, Ahmed Al-Muhaideb, Zuhair Rahbeeni, Abdullah Al-Sehli, Fatima Al-Fadhli, Pinar T. Ozand, Robert W. Taylor, Namik Kaya
Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency
Parith Wongkittichote, Sumalee Tungpradabkul, Duangrurdee Wattanasirichaigoon, Laran T. Jensen
Normal rates of whole-body fat oxidation and gluconeogenesis after overnight fasting and moderate-intensity exercise in patients with medium-chain acyl-CoA dehydrogenase deficiency
Hidde H. Huidekoper, Mariëtte T. Ackermans, René Koopman, Luc J. C. van Loon, Hans P. Sauerwein, Frits A. Wijburg
Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease
Xènia Ferrer-Cortès, Aida Font, Núria Bujan, Aleix Navarro-Sastre, Leslie Matalonga, José Antonio Arranz, Encarnació Riudor, Mireia del Toro, Angels Garcia-Cazorla, Jaume Campistol, Paz Briones, Antonia Ribes, Frederic Tort
The incidence of inherited porphyrias in Europe
George Elder, Pauline Harper, Michael Badminton, Sverre Sandberg, Jean-Charles Deybach
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review
Rabab Debs, Roseline Froissart, Patrick Aubourg, Caroline Papeix, Claire Douillard, Bertrand Degos, Bertrand Fontaine, Bertrand Audoin, Arnaud Lacour, Gérard Said, Marie T. Vanier, Frédéric Sedel
Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes
Derek G. Burke, Ahad A. Rahim, Simon N. Waddington, Stefan Karlsson, Ida Enquist, Kailash Bhatia, Atul Mehta, Ashok Vellodi, Simon Heales
Cross-sectional baseline analysis of electrocardiography in a large cohort of patients with untreated Fabry disease
Markus Niemann, Tanja Hartmann, Mehdi Namdar, Frank Breunig, Meinrad Beer, Wolfram Machann, Sebastian Herrmann, Georg Ertl, Christoph Wanner, Frank Weidemann
Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation
Yin-Hsiu Chien, Olaf A. Bodamer, Shu-Chuan Chiang, Hermann Mascher, Christina Hung, Wuh-Liang Hwu
Screening for congenital disorders of glycosylation in the first weeks of life
Christian Thiel, Dorothea Meßner-Schmitt, Georg F. Hoffmann, Christian Körner
Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study
Jun Ye, Yanling Yang, Weimin Yu, Hui Zou, Jianhui Jiang, Rulai Yang, Sunny Shang, Xuefan Gu
Important aspects in the molecular diagnosis of mucopolysaccharidoses
Ana Carolina Brusius-Facchin, Francyne Kubaski, Roberto Giugliani, Sandra Leistner-Segal