Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion.
作者： Imre F. Schene , Viera Kalinina Ayuso , Monique de Sain-van der Velden , Koen L. I. van Gassen , Inge Cuppen
关键词:
摘要: 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 in two sisters, currently aged 14 (patient 1) 15 2).
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