Skin ultrastructural findings in type 2 Gaucher disease: Diagnostic implications
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چکیده
منابع مشابه
Type 3 Gaucher disease, diagnostic in adulthood
El-Beshlawy reported in the issue of the Journal the largest experience to date of patients with type 3 Gaucher disease (GD3) treated by imiglucerase and enrolled in an International Registry [1]. They confirmed both a very early clinical presentation (median age at diagnosis: 1.7 year) and a good prognosis (probability of surviving for at least 5 years after starting imiglucerase of 92%). Howe...
متن کاملtype 2 gaucher disease (acute infantile gaucher disease or neuropathic type)
how to cite this article: taghdiri mm. type 2 gaucher disease (acute infantile gaucher disease or neuropathic type). iran j child neurol autumn 2012; 6:4 (suppl. 1):12. pls see pdf.
متن کاملdiagnostic methods for gaucher disease
how to cite this article: salehpour sh. diagnostic methods for gaucher disease. iran j child neurol. 2015 autumn;9:4(suppl.1): 14-15. pls see pdf.
متن کاملOculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings
Objectives To evaluate the function of the oculomotor and vestibular systems and to correlate these findings with the clinical status of patients with Gaucher disease type 3 (GD3). The goal of this cross-sectional and longitudinal study was to find oculomotor biomarkers for future clinical trials. Methods Twenty-six patients with GD3 were assessed for eligibility and 21 were able to perform a...
متن کاملCholelithiasis in a patient with type 2 Gaucher disease.
Gaucher disease is an autosomal recessively inherited lysosomal storage disease in which a deficiency of glucocerebrosidase is associated with the accumulation of glucocerebroside in reticuloendothelial cells. Clinically, 3 types of Gaucher disease have been defined on the basis of the presence or absence of neurological symptoms. The frequency of gallbladder involvement is reportedly greater i...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2011
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2011.09.008