Ausgabe 3/2014
Inhalt (18 Artikel)
Human pyrroline-5-carboxylate reductase (PYCR1) acts on Δ1-piperideine-6-carboxylate generating L-pipecolic acid
Eduard A. Struys, Erwin E. W. Jansen, Gajja S. Salomons
Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management
Jooho Lee, Robert A. Hegele
Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis
Saskia M. Rombach, Bouwien E. Smid, Gabor E. Linthorst, Marcel G. W. Dijkgraaf, Carla E. M. Hollak
Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligases
Paula B. M. Luís, Jos Ruiter, Lodewijk IJlst, Isabel Tavares de Almeida, Marinus Duran, Ronald J. A. Wanders, Margarida F. B. Silva
Metabolic biology of 3-methylglutaconic acid-uria: a new perspective
Betty Su, Robert O. Ryan
Dietary triheptanoin rescues oligodendrocyte loss, dysmyelination and motor function in the nur7 mouse model of Canavan disease
Jeremy S. Francis, Vladimir Markov, Paola Leone
Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia
Steffi van de Ven, Thatjana Gardeitchik, Dorus Kouwenberg, Leo Kluijtmans, Ron Wevers, Eva Morava
Increased aortic stiffness and blood pressure in non-classic Pompe disease
Stephan C. A. Wens, Esther Kuperus, Francesco U. S. Mattace-Raso, Michelle E. Kruijshaar, Esther Brusse, Kees C. A. G. M. van Montfort, Marjan Scheltens- de Boer, Eric J. G. Sijbrands, Ans T. van der Ploeg, Pieter A. van Doorn
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency
Jianying Xi, Bing Wen, Jie Lin, Wenhua Zhu, Sushan Luo, Chongbo Zhao, Duoling Li, Pengfei Lin, Jiahong Lu, Chuanzhu Yan
Muscle MRI in patients with long-chain fatty acid oxidation disorders
Eugene F. Diekman, W. Ludo van der Pol, Rutger A. J. Nievelstein, Sander M. Houten, Frits A. Wijburg, Gepke Visser
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome
S. E. Sparks, C. A. Wassif, H. Goodwin, S. K. Conley, D. C. Lanham, L. E. Kratz, K. Hyland, A. Gropman, E. Tierney, F. D. Porter
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis
Andrea Mignarri, Gian Nicola Gallus, Maria Teresa Dotti, Antonio Federico
Natural history of Sanfilippo syndrome type A
Dakota Buhrman, Kavita Thakkar, Michele Poe, Maria L. Escolar
Treatment effect of coenzyme Q10 and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease
Leslie Matalonga, Angela Arias, María Josep Coll, Judit Garcia-Villoria, Laura Gort, Antonia Ribes
Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease)
J. de Ruijter, L. Broere, M. F. Mulder, A. T. van der Ploeg, M. E. Rubio-Gozalbo, S. B. Wortmann, G. Visser, F. A. Wijburg
Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS)
Tomas Palecek, Jitka Honzikova, Helena Poupetova, Hana Vlaskova, Petr Kuchynka, Lubor Golan, Sudheera Magage, Ales Linhart
Update on transcobalamin deficiency: clinical presentation, treatment and outcome
Y. J. Trakadis, A. Alfares, O. A. Bodamer, M. Buyukavci, J. Christodoulou, P. Connor, E. Glamuzina, F. Gonzalez-Fernandez, H. Bibi, B. Echenne, I. Manoli, J. Mitchell, M. Nordwall, C. Prasad, F. Scaglia, M. Schiff, B. Schrewe, G. Touati, M. C. Tchan, B. Varet, C. P. Venditti, D. Zafeiriou, C. A. Rupar, D. S. Rosenblatt, D. Watkins, N. Braverman
Erratum to: Concordance rates of Wilson’s disease phenotype among siblings
Grzegorz Chabik, Tomasz Litwin, Anna Członkowska