نتایج جستجو برای: sandhoff disease
تعداد نتایج: 1490121 فیلتر نتایج به سال:
Maulik K, et al. BMJ Case Rep 2017. doi:10.1136/bcr-2017-220912 Description We evaluated a boy aged 16 months with developmental arrest at the age of 6 months followed by neuroregression and recurrent generalised seizures. Perinatal and family history was not contributory. He was first born to non-consanguineous parents by term, uncomplicated vaginal delivery and weighed 2.8 kg at birth. On exa...
after test and review results and analysis of farm data, the following results were obtained. the review examined farms was done and the results obtained in this study was to determine the effectiveness of vaccines hatchpak avinew (frozen) and hatchpak ib h120 with spray in broilers a day in factories incubation and at least,they can be as vaccines avinew and bioral h120 ability to create saf...
References 1. Carpenter KH, Wiley V. Application of tandem mass spectrometry to biochemical genetics and newborn screening. Clin Chim Acta 2002;322:1–10. 2. Carreiro-Lewandowski E. Newborn screening: an overview. Clin Lab Sci 2002;15:229–30. 3. Jones PM, Bennett MJ. The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry. Clin Chim Acta 2002;...
بیماری سلیاک (coeliac disease)یک اختلال خودایمنی با زمینه ژنتیکی است. در بیماری سلیاک، سیستم ایمنی ترکیبات موجود در گلوتن را به عنوان تهدیدی برای بدن به حساب آورده و به آن ها حمله می کند. این امر باعث آسیب پرزهای روده باریک شده و توانایی بدن در جذب مواد غذایی را از بین می برد. گلوتن پروتئینی است که در غلاتی نظیر گندم، جو، چاودار و برخی اوقات جو دوسر یافت می شود. درمانی برای بیماری سلیاک وجود ند...
Introduction A considerable body of knowledge has been accumulated in recent years concerning severe genetic neurological diseases such as Tay-Sachs, Sandhoffs disease, juvenile GM2 gangliosidosis, juvenile GM1 gangliosidosis, chronic Gaucher's disease, and Fabry's disease. Those are in effect genetic sphingolipid-oses (O'Brien et al., 1972). The detection of both homozygotes and heterozygotes ...
Tumor hypoxia figures heavily in malignant progression by altering the intracellular glucose metabolism and inducing angiogenic factor production, thus, selecting and expanding more aggressive cancer cell clones. Little is known, however, regarding hypoxia-induced antigenic changes in cancers. We investigated the expression of N-glycolyl sialic acid (NeuGc)-G(M2), a cancer-associated gangliosid...
Galactosaemia : a new severe variant due to uridine diphosphate galactose - 4 - epimerase deficiency
2 Emberger J M, Rodiere M, Astruc J, Brunel D. Syndrome de Prader Willi et translocation 15/15. Ann Genet (Paris) 1977; 20: 297-300. 3 Fraccaro M, Zuffardi 0, Buhler E M, Jurik L P. 15/15 translocation in Prader Willi syndrome. J Med Genet 1977; 14: 275-8. 4 Smith A, Noel M. A girl with the Prader Willi syndrome and Robertsonian translocation 45,XX,t(14;15) (p1 q1 1) which was present in 3 norm...
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