منابع مشابه
The importance of correct phenotyping in Gaucher disease.
Recently, it has been claimed that patients with Gaucher disease type 1 have subclinical neurological signs as indicated by electrophysiological measurements. These findings, if substantiated, are very significant in the management of Gaucher disease. In type 1 disease (nonneuronopathic), enzyme replacement therapy is the therapy of choice, with substantial biomedical correction achieved in mos...
متن کاملACE phenotyping in human heart
AIMS Angiotensin-converting enzyme (ACE), which metabolizes many peptides and plays a key role in blood pressure regulation and vascular remodeling, is expressed as a type-1 membrane glycoprotein on the surface of different cells, including endothelial cells of the heart. We hypothesized that the local conformation and, therefore, the properties of heart ACE could differ from lung ACE due to di...
متن کاملGaucher Disease and Gaucher Cells
4. Özsoylu S, Allahverdi H, Laleli Y, Pirnar A. Platelet survival in childhood idiopathic thrombocytopenic purpura in remission. J Pediatr 1976;89:388-390. 5. Özsoylu Ş, Karabent A, Irken G, Tuncer M. Antiplatelet antibody in childhood idiopathic thrombocytopenic purpura. Am J Hematol 1991;36:82-85. 6. Özsoylu Ş, Ertürk G. Oral megadose methylprednisolone for acute childhood idiopathic thromboc...
متن کاملParkinson disease in Gaucher disease
BACKGROUND Gaucher disease (GD) is an inborn error of metabolism caused by mutations in the gene (GBA) coding for glucocerebrosidase (GCase), inherited in an autosomal recessive pattern. GD patients have up to 9% risk of developing PD. CASE PRESENTATION We report two patients with GD that developed PD at different disease stages. CONCLUSION We reviewed the literature on the coexistence of P...
متن کاملGaucher disease
ةيداع ريغ ةيريرس تاملاع نم يناعي تاونس 8 هرمع يبص انفصو نم ضرم وه "رشوج" ضرم .ةرمدم جئاتن عم رشوج ضرم نم صقن نع جتنيو ةنمزلما ةيموزوزيللا نيزختلا تابارطضا ضارمأ رهاظبم "رشوج" ضرم زيمتي "زيديسوربيريسوكولج" يمزنأ يف .يعانلما زاهلجا رثأت ىلع يوطنت ام اًبلاغ نكلو ةفلتخم ةيريرس ساسأ ىلع "رشوج" ضرلم ةزيمتم ةيعرف عاونأ 3 تفصو دقل صيخشت متيو .يبصعلا زاهلجا رثأت ضارعأ بايغ وأ دوجو روتح ةسارد ،طاشنلا صحف ...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2018
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2018.02.007