Ausgabe 6/2013
Inhalt (25 Artikel)
3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients
Saskia B. Wortmann, Leo A. J. Kluijtmans, Richard J. Rodenburg, Jörn Oliver Sass, Jessica Nouws, Edwin P. van Kaauwen, Tjitske Kleefstra, Lisbeth Tranebjaerg, Maaike C. de Vries, Pirjo Isohanni, Katharina Walter, Fowzan S. Alkuraya, Izelle Smuts, Carolus J. Reinecke, Francois H. van der Westhuizen, David Thorburn, Jan A. M. Smeitink, Eva Morava, Ron A. Wevers
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature
Saskia B. Wortmann, Marinus Duran, Yair Anikster, Peter G. Barth, Wolfgang Sperl, Johannes Zschocke, Eva Morava, Ron A. Wevers
Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome
Agnieszka Karkucinska-Wieckowska, Joanna Trubicka, Bozena Werner, Katarzyna Kokoszynska, Magdalena Pajdowska, Maciej Pronicki, Elzbieta Czarnowska, Magdalena Lebiedzinska, Jolanta Sykut-Cegielska, Lidia Ziolkowska, Weronika Jaron, Anna Dobrzanska, Elzbieta Ciara, Mariusz R. Wieckowski, Ewa Pronicka
Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixture
A. Servais, J. B. Arnoux, C. Lamy, A. Hummel, N. Vittoz, I. Katerinis, V. Bazzaoui, S. Dubois, C. Broissand, M. C. Husson, M. P. Berleur, D. Rabier, C. Ottolenghi, V. Valayannopoulos, P. de Lonlay
Structural white matter changes in adolescents and young adults with maple syrup urine disease
D. Klee, E. Thimm, H. J. Wittsack, D. Schubert, R. Primke, G. Pentang, J. Schaper, U. Mödder, A. Antoch, U. Wendel, M. Cohnen
In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria
Gladys Ho, Juergen Reichardt, John Christodoulou
Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria
Maria Veiga-da-Cunha, Nanda M. Verhoeven-Duif, Tom J. de Koning, Marinus Duran, Bert Dorland, Emile Van Schaftingen
S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation
Eveline E. O. Hagebeuk, Marinus Duran, Nico G. G. M. Abeling, Arno Vyth, Bwee Tien Poll-The
Carnitine supplementation attenuates myocardial lipid accumulation in long-chain acyl-CoA dehydrogenase knockout mice
Adrianus J. Bakermans, Michel van Weeghel, Simone Denis, Klaas Nicolay, Jeanine J. Prompers, Sander M. Houten
A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency
Naeem Shafqat, Kate L. Kavanagh, Jörn Oliver Sass, Ernst Christensen, Toshiyuki Fukao, Wen Hwa Lee, Udo Oppermann, Wyatt W. Yue
The brain in late-onset glycogenosis II: a structural and functional MRI study
Barbara Borroni, M. S. Cotelli, E. Premi, S. Gazzina, M. Cosseddu, A. Formenti, R. Gasparotti, M. Filosto, A. Padovani
Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype
Wafaa Eyaid, Talal Al Harbi, Shamsa Anazi, Mirjam M. C. Wamelink, Cornelis Jakobs, Mohammad Al Salammah, Mohammed Al Balwi, Majid Alfadhel, Fowzan S. Alkuraya
Craniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgery
Christina Lampe, Christian Lampe, Manfred Schwarz, Wibke Müller-Forell, Paul Harmatz, Eugen Mengel
Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study
L. Borgwardt, C. I. Dali, J. Fogh, J. E. Månsson, K. J. Olsen, H. C. Beck, K. G. Nielsen, L. H. Nielsen, S. O. E. Olsen, H. M. F. Riise Stensland, O. Nilssen, F. Wibrand, A. M. Thuesen, T. Pearl, U. Haugsted, P. Saftig, J. Blanz, S. A. Jones, A. Tylki-Szymanska, N. Guffon-Fouiloux, M. Beck, A. M. Lund
Evoked potentails and neurocognitive functions in pediatric Egyptian Gaucher patients on enzyme replacement therapy: a single center experience
Azza Abdel Gawad Tantawy, Eman Mounir Sherif, Amira Abdel Moneam Adly, Sahar Hassanine, Amina Hafez Awad
Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG
Dorothy A. Thompson, Ruth J. Lyons, Isabelle Russell-Eggitt, Alki Liasis, Herbert Jägle, Stephanie Grünewald
Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia
Emily L. Ryan, Mary Ellen Lynch, Elles Taddeo, Tyler J. Gleason, Michael P. Epstein, Judith L. Fridovich-Keil
High risk of primary liver cancer in a cohort of 179 patients with Acute Hepatic Porphyria
Eliane Sardh, Staffan Wahlin, Mikael Björnstedt, Pauline Harper, Dan E. H. Andersson
Increased human dermal microvascular endothelial cell survival induced by cysteamine
M. Besouw, L. van den Heuvel, R. van Eijsden, I. Bongaers, L. Kluijtmans, M. Dewerchin, E. Levtchenko
Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis
Mikhail M. Kostik, Irina A. Chikova, Vladislav V. Avramenko, Laly I. Vasyakina, Emmanuelle Le Trionnaire, Vyacheslav G. Chasnyk, Thierry Levade
Hypertrichosis in presymptomatic mitochondrial disease
Fabian Baertling, Ertan Mayatepek, Felix Distelmaier
Disappearance of congenital noncompaction in hereditary cobalamin-C-deficiency 2.5 years after birth
Josef Finsterer, Claudia Stöllberger
Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease
Pranoot Tanpaiboon, Charles P. Venditti
Unknown pathomechanisms of renal impairment in PKU
Julia B. Hennermann, Uwe Querfeld
Erratum to: 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