نتایج جستجو برای: tay

تعداد نتایج: 1441  

Journal: :Journal of Korean Medical Science 1993
H. W. Yoo K. H. Astrin R. J. Desnick

Tay-Sachs disease (GM2 gangliosidosis, type 1; TSD) is an autosomal recessive GM2 gangliosidosis resulting from the deficient activity of the lysosomal hydrolase beta-hexosaminidase A (Hex A). With a carrier frequency estimated at 1 in 25, it is a common lysosomal disorder in the Ashkenazi Jewish population. Tay-Sachs disease has provided the prototype for the prevention of severe recessive gen...

Journal: :Archives of internal medicine 1998
D Kronn V Jansen H Ostrer

BACKGROUND By late 1993, the genes for cystic fibrosis and Gaucher disease and the mutations common among Ashkenazi Jews had been identified. In response to these advances, heterozygote screening for cystic fibrosis and Gaucher disease was added to the more than 20-year-old Tay-Sachs disease screening program at New York University Medical Center, New York, NY. OBJECTIVE To review the outcome...

2002
GLORIA C. CHEN

The carbohydrate composition was determined for ceramide hexosides isolated from brains of patients with Tay-Sachs disease and generalized gangliosidosis (hereby named GM1-gangliosidosis). Gray matter of patients with each disease showed a characteristic abnormal ceramide hexoside pattern. In Tay-Sachs gray matter, ceramide trihexoside is the major component, whereas ceramide tetrahexoside is b...

Journal: :Eur. J. Comb. 2010
Bill Jackson Tibor Jordán

Tay [6] characterized the multigraphs which can be realized as infinitesimally rigid d-dimensional body-and-bar frameworks. Subsequently, Tay [7] and Whiteley [11] independently characterized the multigraphs which can be realized as infinitesimally rigid d-dimensional body-and-hinge frameworks. We adapt Whiteley’s proof technique to characterize the multigraphs which can be realized as infinite...

Journal: :Journal of lipid research 1967
K Suzuki G C Chen

The carbohydrate composition was determined for ceramide hexosides isolated from brains of patients with Tay-Sachs disease and generalized gangliosidosis (hereby named GM1-gangliosidosis). Gray matter of patients with each disease showed a characteristic abnormal ceramide hexoside pattern. In Tay-Sachs gray matter, ceramide trihexoside is the major component, whereas ceramide tetrahexoside is b...

2014
Parvaneh KARIMZADEH Narjes JAFARI Habibeh NEJAD BIGLARI Sayena JABBEH DARI Farzad AHMAD ABADI Mohammad-Reza ALAEE Hamid NEMATI Sasan SAKET Seyed Hasan TONEKABONI Mohammad-Mahdi TAGHDIRI Mohammad GHOFRANI

OBJECTIVE GM2-Gangliosidosis disease is a rare autosomal recessive genetic disorder that includes two disorders (Tay-Sachs and Sandhoff disease).These disorders cause a progressive deterioration of nerve cells and inherited deficiency in creating hexosaminidases A, B, and AB. MATERIALS & METHODS Patients who were diagnosed withGM2-Gangliosidosis in the Neurology Department of Mofid Children's...

2017
Mason G. Haber Thomas M. LaPorte Brittany Holt

Participatory action research and evaluation methods (PAR) have been used to help individuals to address a variety of challenges and improve the responsiveness of service systems to these challenges. To the present, however, few studies have examined applications of PAR in systems change advocacy for youth with mental health needs in the transition to adulthood (transitionage youth [TAY]). PAR ...

Journal: :Proceedings of the Royal Society of Medicine 1936

Journal: :Journal of Neurology, Neurosurgery & Psychiatry 1979

Journal: :Prenatal diagnosis 2002
John E Rice J Aquiles Sanchez Kenneth E Pierce Lawrence J Wangh

The results presented here provide the first single-cell genetic assay for Tay-Sachs disease based on real-time PCR. Individual lymphoblasts were lysed with an optimized lysis buffer and assayed using one pair of primers that amplifies both the wild type and 1278 + TATC Tay-Sachs alleles. The resulting amplicons were detected in real time with two molecular beacons each with a different colored...

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