151 CLINICAL HETEROGENEITY IN GAUCHER DISEASE TYPE 3
نویسندگان
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 کاملGenetic heterogeneity in Gaucher disease.
Considerable clinical variability occurs in adult Gaucher disease type I and three main subtypes may be delineated: a very mild form, a severe form, and a moderate form which itself presents various clinical manifestations. A study based on 25 families from our clinic and a review of published reports showed that when both parents were heterozygous and more than one child was affected with Gauc...
متن کاملclinical manifestations of type 1 gaucher disease
how to cite this article: salehpour sh. clinical manifestations of type 1 gaucher disease. iran j child neurol autumn 2012; 6:4 (suppl. 1):13-14. pls see pdf. refe r ences 1. beutler e, grabowski ga. gaucher disease. in: metabolic and molecular bases of inherited disease, scriver cr, beaudet al, sly ws, valle d (eds), mcgraw-hill, new york 2001: 3635. 2. cox tm, schofield jp. gaucher’s diseas...
متن کاملMolecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level.
Type 1 Gaucher disease families were studied in an attempt to establish a phenotype/genotype correlation in affected persons and also to identify carriers accurately. In the Portuguese type 1 Gaucher patients, screening for mutations N370S, L444P, R463C, and 1066 + 1 G-->A allowed the identification of 85% of the alleles among unrelated patients. A subclinical case with genotype N370S/1066 + 1 ...
متن کاملThe Saccadic and Neurological Deficits in Type 3 Gaucher Disease
UNLABELLED Our objective was to characterize the saccadic eye movements in patients with type 3 Gaucher disease (chronic neuronopathic) in relationship to neurological and neurophysiological abnormalities. For approximately 4 years, we prospectively followed a cohort of 15 patients with Gaucher type 3, ages 8-28 years, by measuring saccadic eye movements using the scleral search coil method. We...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1986
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198610000-00206