Ausgabe 1/2017
Inhalt (16 Artikel)
Ketones and inborn errors of metabolism: old friends revisited
Rob C. I. Wüst, Gepke Visser, Ronald J. A. Wanders, Riekelt H. Houtkooper
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders
Ivo Barić, Christian Staufner, Persephone Augoustides-Savvopoulou, Yin-Hsiu Chien, Dries Dobbelaere, Sarah C. Grünert, Thomas Opladen, Danijela Petković Ramadža, Bojana Rakić, Anna Wedell, Henk J. Blom
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
Martina Huemer, Daria Diodato, Bernd Schwahn, Manuel Schiff, Anabela Bandeira, Jean-Francois Benoist, Alberto Burlina, Roberto Cerone, Maria L. Couce, Angeles Garcia-Cazorla, Giancarlo la Marca, Elisabetta Pasquini, Laura Vilarinho, James D. Weisfeld-Adams, Viktor Kožich, Henk Blom, Matthias R. Baumgartner, Carlo Dionisi-Vici
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
Andrew A. M. Morris, Viktor Kožich, Saikat Santra, Generoso Andria, Tawfeg I. M. Ben-Omran, Anupam B. Chakrapani, Ellen Crushell, Mick J. Henderson, Michel Hochuli, Martina Huemer, Miriam C. H. Janssen, Francois Maillot, Philip D. Mayne, Jenny McNulty, Tara M. Morrison, Helene Ogier, Siobhan O’Sullivan, Markéta Pavlíková, Isabel Tavares de Almeida, Allyson Terry, Sufin Yap, Henk J. Blom, Kimberly A. Chapman
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision
Nikolas Boy, Chris Mühlhausen, Esther M. Maier, Jana Heringer, Birgit Assmann, Peter Burgard, Marjorie Dixon, Sandra Fleissner, Cheryl R. Greenberg, Inga Harting, Georg F. Hoffmann, Daniela Karall, David M. Koeller, Michael B. Krawinkel, Jürgen G. Okun, Thomas Opladen, Roland Posset, Katja Sahm, Johannes Zschocke, Stefan Kölker, Berthold Koletzko, Diana Ballhausen, Alberto B. Burlina, Ralph Fingerhut, Angeles García-Cazorla, Martin Lindner, Sabine Scholl-Bürgi, Stephan vom Dahl
Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings
Laurent Guibaud, Sophie Collardeau-Frachon, Audrey Lacalm, Mona Massoud, Massimiliano Rossi, Marie Pierre Cordier, Christine Vianey-Saban
Lack of global epigenetic methylation defects in CBS deficient mice
Hyung-Ok Lee, Liqun Wang, Yin-Ming Kuo, Sapna Gupta, Michael J. Slifker, Yue-sheng Li, Andrew J. Andrews, Warren D. Kruger
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria
Monika Oláhová, Kyle Thompson, Steven A. Hardy, Inês A. Barbosa, Arnaud Besse, Maria-Eleni Anagnostou, Kathryn White, Tracey Davey, Michael A. Simpson, Michael Champion, Greg Enns, Susan Schelley, Robert N. Lightowlers, Zofia M. A. Chrzanowska-Lightowlers, Robert McFarland, Charu Deshpande, Penelope E. Bonnen, Robert W. Taylor
Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiency
Wyman Chen, Rose Caston, Bijina Balakrishnan, Anwer Siddiqi, Kamalpreet Parmar, Manshu Tang, Merry Feng, Kent Lai
Cardiomyopathy as presenting sign of glycogenin-1 deficiency—report of three cases and review of the literature
Carola Hedberg-Oldfors, Emma Glamuzina, Peter Ruygrok, Lisa J. Anderson, Perry Elliott, Oliver Watkinson, Chris Occleshaw, Malcolm Abernathy, Clinton Turner, Nicola Kingston, Elaine Murphy, Anders Oldfors
Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry
Francyne Kubaski, Robert W. Mason, Akiko Nakatomi, Haruo Shintaku, Li Xie, Naomi N. van Vlies, Heather Church, Roberto Giugliani, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Tadao Orii, Toshiyuki Fukao, Adriana M. Montaño, Shunji Tomatsu
Lethal neonatal hyperammonemia in severe ornithine transcarbamylase (OTC) deficiency compounded by large hepatic portosystemic shunt
Lauren Beard, Erica Wymore, Laura Fenton, Curtis R. Coughlin, James D. Weisfeld-Adams
Carla E. M. Hollak and Robin Lachmann (editors) Inherited metabolic disease in adults - A clinical guide
Peter Burgard