Ausgabe 6/2017
Inhalt (16 Artikel)
Liver involvement in urea cycle disorders: a review of the literature
Adrien Bigot, Michel C. Tchan, Benjamin Thoreau, Hélène Blasco, François Maillot
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)
Gerald Salen, Robert D. Steiner
Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease
Marie-Thérèse Abi-Wardé, Célina Roda, Jean-Baptiste Arnoux, Aude Servais, Florence Habarou, Anais Brassier, Clément Pontoizeau, Valérie Barbier, Manuella Bayart, Virginie Leboeuf, Bernadette Chadefaux-Vekemans, Sandrine Dubois, Murielle Assoun, Claire Belloche, Jean-Meidi Alili, Marie-Caroline Husson, Fabrice Lesage, Laurent Dupic, Benoit Theuil, Chris Ottolenghi, Pascale de Lonlay
Predictability and inconsistencies in the cognitive outcome of early treated PKU patients
Filippo Manti, Francesca Nardecchia, Sabrina Paci, Flavia Chiarotti, Claudia Carducci, Carla Carducci, Silvia Dalmazzone, Graziella Cefalo, Elisabetta Salvatici, Giuseppe Banderali, Vincenzo Leuzzi
Critical appraisal of genotype assessment in molybdenum cofactor deficiency
Katrin Hinderhofer, Konstantin Mechler, Georg F. Hoffmann, Anette Lampert, William K. Mountford, Markus Ries
Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia
Allison B. Frederick, David J. Cutler, Judith L. Fridovich-Keil
PRKAG2 mutations presenting in infancy
Rachel D. Torok, Stephanie L. Austin, Chanika Phornphutkul, Kathleen M. Rotondo, Deeksha Bali, Gregory H. Tatum, Stephanie B. Wechsler, Anne F. Buckley, Priya S. Kishnani
Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial
Melanie B. Gillingham, Stephen B. Heitner, Julie Martin, Sarah Rose, Amy Goldstein, Areeg Hassan El-Gharbawy, Stephanie Deward, Michael R. Lasarev, Jim Pollaro, James P. DeLany, Luke J. Burchill, Bret Goodpaster, James Shoemaker, Dietrich Matern, Cary O. Harding, Jerry Vockley
Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis
Hideo Sasai, Yuka Aoyama, Hiroki Otsuka, Elsayed Abdelkreem, Yasuhiro Naiki, Mitsuru Kubota, Yuji Sekine, Masatsune Itoh, Mina Nakama, Hidenori Ohnishi, Ryoji Fujiki, Osamu Ohara, Toshiyuki Fukao
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients
Ewa Pronicka, Mariola Ropacka-Lesiak, Joanna Trubicka, Magdalena Pajdowska, Markus Linke, Elsebet Ostergaard, Carol Saunders, Sandra Horsch, Clara van Karnebeek, Joy Yaplito-Lee, Felix Distelmaier, Katrin Õunap, Shamima Rahman, Martin Castelle, John Kelleher, Safa Baris, Katarzyna Iwanicka-Pronicka, Colin G. Steward, Elżbieta Ciara, Saskia B. Wortmann, Dorota Piekutowska-Abramczuk, Dariusz Rokicki, Olga Fałek, Anna Nowak, Krystyna Brązert, Andrew Green, Johannes A. Mayr
The presence of anaemia negatively influences survival in patients with POLG disease
Omar Hikmat, Tzoulis Charalampos, Claus Klingenberg, Magnhild Rasmussen, Chantal M. E. Tallaksen, Eylert Brodtkorb, Torunn Fiskerstrand, Robert McFarland, Shamima Rahman, Laurence A. Bindoff
Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)
Barbara K. Burton, Virginie Jego, Jaromir Mikl, Simon A. Jones
Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders
Femke C. C. Klouwer, Sacha Ferdinandusse, Henk van Lenthe, Wim Kulik, Ronald J. A. Wanders, Bwee Tien Poll-The, Hans R. Waterham, Frédéric M. Vaz
Vitamin B6 is essential for serine de novo biosynthesis
Rúben J. Ramos, Mia L. Pras-Raves, Johan Gerrits, Maria van der Ham, Marcel Willemsen, Hubertus Prinsen, Boudewijn Burgering, Judith J. Jans, Nanda M. Verhoeven-Duif