Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion

Neuraminidase deficiency (mucolipidosis I, sialidosis types I and II, cherry-red spot myoclonus syndrome) is a lysosomal storage disorder with an expanding clinical phenotype. Here, we report the striking diagnostic history of late-onset neuraminidase deficiency in two sisters, currently aged 14 (pa...

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Publicat a:JIMD Rep
Autors principals: Schene, Imre F., Kalinina Ayuso, Viera, de Sain-van der Velden, Monique, van Gassen, Koen L. I., Cuppen, Inge, van Hasselt, Peter M., Visser, Gepke
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2015
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5059187/
https://ncbi.nlm.nih.gov/pubmed/26141460
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_472
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