Articles not assigned to an issue (152 articles)

1. 

   SSIEM Symposium 2012

   Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability

   Simon E Olpin

   Look Inside Get Access

2. 

   SSIEM Symposium 2012

   Gastrointestinal and hepatic manifestations of mitochondrial disorders

   Shamima Rahman

   Look Inside Get Access

3. Letter to the Editors

   Does the PKU diet contribute to impaired renal function?

   Denise M. Ney

   Download PDF (66KB) View Article

4. 

   Original Article

   Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands

   Jan Rasmussen, Olav W. Nielsen, Nils Janzen…

   Look Inside Get Access

5. 

   Original Article

   Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1

   Stephanie M. Cologna, Celine V. M. Cluzeau…

   Look Inside Get Access

6. 

   Review

   Mucopolysaccharide diseases: A complex interplay between neuroinflammation, microglial activation and adaptive immunity

   Louise D. Archer, Kia J. Langford-Smith…

   Look Inside Get Access

7. 

   Letter to the Editors

   Disappearance of congenital noncompaction in hereditary cobalamin-C-deficiency 2.5 years after birth

   Josef Finsterer, Claudia Stöllberger

   Get Access

8. 

   Original Article

   Early cardiovascular remodelling in Fabry disease

   Luca Costanzo, Sergio Buccheri, Piera Capranzano…

   Look Inside Get Access

9. 

   Original Article

   The brain in late-onset glycogenosis II: a structural and functional MRI study

   Barbara Borroni, M. S. Cotelli, E. Premi…

   Look Inside Get Access

10. 

    Original Article

    Glutathione metabolism in cobalamin deficiency type C (cblC)

    Anna Pastore, Diego Martinelli, Fiorella Piemonte…

    Look Inside Get Access

11. 

    Original Article

    Carnitine supplementation attenuates myocardial lipid accumulation in long-chain acyl-CoA dehydrogenase knockout mice

    Adrianus J. Bakermans, Michel van Weeghel…

    Look Inside Get Access

12. 

    Original Article

    In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria

    Gladys Ho, Juergen Reichardt, John Christodoulou

    Look Inside Get Access

13. 

    SSIEM Symposium 2012

    Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation

    Stefan Kölker, Peter Burgard, Sven W. Sauer…

    Look Inside Get Access

14. 

    SSIEM Symposium 2012

    Impact of new screening technologies: should we screen and does phenotype influence this decision?

    James Robert Bonham

    Look Inside Get Access

15. 

    Original Article

    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…

    Look Inside Get Access

16. 

    Original Article

    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…

    Look Inside Get Access

17. 

    Original Article

    An update on serine deficiency disorders

    S. N. van der Crabben, N. M. Verhoeven-Duif…

    Look Inside Get Access

18. Erratum

    Erratum to: Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes

    Derek G. Burke, Ahad A. Rahim…

    Download PDF (62KB) View Article

19. 

    Original Article

    Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG

    Dorothy A. Thompson, Ruth J. Lyons…

    Look Inside Get Access

20. Original Article

    A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency

    Naeem Shafqat, Kate L. Kavanagh, Jörn Oliver Sass…

    Download PDF (300KB) View Article