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TIB reading rooms collection

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  1. The PLATO 2.0 mission

    Free access
    Rauer, H. / Catala, C. / Aerts, C. et al. | DSpace@MIT | 2014
    Publisher: Springer Netherlands

  2. Dealing with methionine/homocysteine sulfur: cysteine metabolism to taurine and inorganic sulfur

    Stipanuk, Martha H. / Ueki, Iori | Wiley | 2011
    Publisher: Springer Netherlands

  3. Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects

    Blom, Henk J. / Smulders, Yvo | Wiley | 2011
    Publisher: Springer Netherlands

  4. Blood–brain barrier structure and function and the challenges for CNS drug delivery

    Abbott, N. Joan | Wiley | 2013
    Publisher: Springer Netherlands

  5. What is new in CDG?

    Jaeken, Jaak / Péanne, Romain | Wiley | 2017
    Publisher: Springer Netherlands

  6. Brown‐Vialetto‐Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

    Bosch, Annet M. / Abeling, Nico G. G. M. / IJlst, Lodewijk et al. | Wiley | 2011
    Publisher: Springer Netherlands

  7. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

    Boy, Nikolas / Mühlhausen, Chris / Maier, Esther M. et al. | Wiley | 2017
    Publisher: Springer Netherlands

  8. Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

    Huemer, Martina / Diodato, Daria / Schwahn, Bernd et al. | Wiley | 2017
    Publisher: Springer Netherlands

  9. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow‐up

    Welling, Lindsey / Bernstein, Laurie E. / Berry, Gerard T. et al. | Wiley | 2017
    Publisher: Springer Netherlands

  10. Percentile indices for assessing changes in heavy precipitation events

    Free access
    Schär, Christoph / Ban, Nikolina / Rajczak, Jan et al. | DSpace@MIT | 2016
    Publisher: Springer Netherlands

  11. Role of protein carbonylation in diabetes

    Hecker, Markus / Wagner, Andreas H. | Wiley | 2018
    Publisher: Springer Netherlands

  12. Promises and pitfalls of untargeted metabolomics

    Gertsman, Ilya / Barshop, Bruce A. | Wiley | 2018
    Publisher: Springer Netherlands

  13. MtDNA‐maintenance defects: syndromes and genes

    Viscomi, Carlo / Zeviani, Massimo | Wiley | 2017
    Publisher: Springer Netherlands

  14. Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo‐controlled study

    Hendriksz, Christian J. / Burton, Barbara / Fleming, Thomas R. et al. | Wiley | 2014
    Publisher: Springer Netherlands

  15. Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism

    Miller, Marcus J. / Kennedy, Adam D. / Eckhart, Andrea D. et al. | Wiley | 2015
    Publisher: Springer Netherlands

  16. Recognizable phenotypes in CDG

    Ferreira, Carlos R. / Altassan, Ruqaia / Marques‐Da‐Silva, Dorinda et al. | Wiley | 2018
    Publisher: Springer Netherlands

  17. Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy

    Burlina, Alberto B. / Polo, Giulia / Salviati, Leonardo et al. | Wiley | 2018
    Publisher: Springer Netherlands

  18. Isolated sulfite oxidase deficiency

    Claerhout, Helena / Witters, Peter / Régal, Luc et al. | Wiley | 2018
    Publisher: Springer Netherlands

  19. Mitochondrial ATP synthase: architecture, function and pathology

    Jonckheere, An I. / Smeitink, Jan A. M. / Rodenburg, Richard J. T. | Wiley | 2012
    Publisher: Springer Netherlands

  20. The role of personality in shaping social networks and mediating behavioral change

    Free access
    Lepri, Bruno / Staiano, Jacopo / Shmueli, Erez et al. | DSpace@MIT | 2016
    Publisher: Springer Netherlands
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