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Zeitschrift

Journal of Inherited Metabolic Disease

Journal of Inherited Metabolic Disease 5/2013

Ausgabe 5/2013

Inhaltsverzeichnis ( 24 Artikel )

01.09.2013 | Original Article | Ausgabe 5/2013

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

01.09.2013 | Original Article | Ausgabe 5/2013

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

01.09.2013 | Original Article | Ausgabe 5/2013

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

01.09.2013 | Original Article | Ausgabe 5/2013

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

01.09.2013 | Original Article | Ausgabe 5/2013

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

01.09.2013 | Original Article | Ausgabe 5/2013

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

01.09.2013 | Original Article | Ausgabe 5/2013

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

01.09.2013 | Original Article | Ausgabe 5/2013

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

01.09.2013 | Original Article | Ausgabe 5/2013

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

01.09.2013 | Original Article | Ausgabe 5/2013

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

01.09.2013 | Original Article | Ausgabe 5/2013

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

01.09.2013 | Original Article | Ausgabe 5/2013

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

01.09.2013 | Original Article | Ausgabe 5/2013

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

01.09.2013 | Original Article | Ausgabe 5/2013

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

01.09.2013 | Original Article | Ausgabe 5/2013

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

01.09.2013 | Original Article | Ausgabe 5/2013

The incidence of inherited porphyrias in Europe

George Elder, Pauline Harper, Michael Badminton, Sverre Sandberg, Jean-Charles Deybach

01.09.2013 | Original Article | Ausgabe 5/2013

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

01.09.2013 | Original Article | Ausgabe 5/2013

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

01.09.2013 | Original Article | Ausgabe 5/2013

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

01.09.2013 | Original Article | Ausgabe 5/2013

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

01.09.2013 | Original Article | Ausgabe 5/2013

Screening for congenital disorders of glycosylation in the first weeks of life

Christian Thiel, Dorothea Meßner-Schmitt, Georg F. Hoffmann, Christian Körner

01.09.2013 | Original Article | Ausgabe 5/2013

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

01.09.2013 | Letter to the Editors | Ausgabe 5/2013

Does the PKU diet contribute to impaired renal function?

Denise M. Ney

01.09.2013 | Letter to the Editors | Ausgabe 5/2013

Important aspects in the molecular diagnosis of mucopolysaccharidoses

Ana Carolina Brusius-Facchin, Francyne Kubaski, Roberto Giugliani, Sandra Leistner-Segal

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