Clinical Approach to Inborn Errors of Metabolism in Pediatrics
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Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/978-3-662-49771-5_1
Reference67 articles.
1. Collardeau-Frachon S, Cordier MP, Rossi M et al (2016) Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder. J inherit Metab Dis 39:597–610
2. Zala D, Hinckelmann MV, Yu H et al. (2013) Vesicular glycolysis provides on-board energy for fast axonal transport. Cell 152:479–491
3. Lamari F, Mochel F, Saudubray JM (2015) An overview of inborn errors of complex lipid biosynthesis and remodelling. J Inherit Metab Dis 38:3–18
4. Sprecher ED, Ischida-Yamamoto A, Mizrahi-Koren M et al. (2005 ) A mutation in SNAP29,coding for a SNARE protein involved in intracellular trafficking,causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma. Am J Hum Genet 77:242–251
5. Hirst J, Edgar JR, Esteves T et al. (2015) Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease. Hum Mol Gen 24:4984–4996
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