In this issue (27 articles)

1. Editorial

   Brown-Vialetto-Van Laere and Fazio Londe syndromes: defects of riboflavin transport with biochemical similarities to multiple acyl-CoA dehydrogenation defects (MADD)

   Michael J. Bennett Pages 941-942

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2. Rapid Communication

   Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

   Tobias B. Haack, Christine Makowski, Yoshiaki Yao… Pages 943-948

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3. 

   Rapid Communication

   Miglustat-induced intestinal carbohydrate malabsorption is due to the inhibition of α-glucosidases, but not β-galactosidases

   Mahdi Amiri, Hassan Y. Naim Pages 949-954

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4. 

   Metabolic Dissertation

   Sjögren–Larsson syndrome in clinical practice

   Joris Fuijkschot, Thomas Theelen… Pages 955-962

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5. 

   Original Article

   An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia

   Thomas Opladen, Georg F. Hoffmann, Nenad Blau Pages 963-973

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6. 

   Original Article

   Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria

   Oriane Leuret, Magalie Barth, Alice Kuster… Pages 975-981

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7. 

   Original Article

   Tetrahydrobiopterin (BH₄) in PKU: effect on dietary treatment, metabolic control, and quality of life

   B. Ziesch, J. Weigel, A. Thiele, U. Mütze… Pages 983-992

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8. 

   Original Article

   Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation

   Raphaël Teissier, Emmanuel Nowak, Murielle Assoun… Pages 993-999

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9. Original Article

   In vivo catecholaminergic metabolism in the medial prefrontal cortex of ENU2 mice: an investigation of the cortical dopamine deficit in phenylketonuria

   Tiziana Pascucci, Giacomo Giacovazzo… Pages 1001-1009

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10. 

    Original Article

    Lysine triggers apoptosis through a NADPH oxidase-dependent mechanism in human renal tubular cells

    Daniela Verzola, Annamaria Famà… Pages 1011-1019

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11. 

    Original Article

    Clinical variability of isovaleric acidemia in a genetically homogeneous population

    M. Dercksen, M. Duran, L. IJlst, L. J. Mienie… Pages 1021-1029

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12. 

    Original Article

    Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency

    Philippa B. Mills, Emma J. Footitt, Serkan Ceyhan… Pages 1031-1036

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13. 

    Original Article

    Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

    Patricia P. Jumbo-Lucioni, Kathryn Garber… Pages 1037-1049

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14. 

    Original Article

    Living situation, occupation and health-related quality of life in adult patients with classic galactosemia

    Björn Hoffmann, Nico Dragano… Pages 1051-1058

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15. Original Article

    Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

    Paul de Laat, Saskia Koene… Pages 1059-1069

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16. 

    Original Article

    Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series

    Anke Thümler, Elke Miebach, Christina Lampe… Pages 1071-1079

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17. 

    Original Article

    Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts

    Massimo Aureli, Rosaria Bassi, Nicoletta Loberto… Pages 1081-1091

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18. Original Article

    The cognitive profile of type 1 Gaucher disease patients

    Marieke Biegstraaten, Keith A. Wesnes… Pages 1093-1099

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19. 

    Original Article

    Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patients

    Giovanni Ciana, Laura Deroma… Pages 1101-1106

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20. 

    Original Article

    Lysosomal delivery of therapeutic enzymes in cell models of Fabry disease

    D. Marchesan, T. M. Cox, P. B. Deegan Pages 1107-1117

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