|1.||Zwierz, Krzysztof: 9 articles (07/2014 - 11/2006)|
|2.||Waszkiewicz, Napoleon: 6 articles (07/2014 - 01/2011)|
|3.||Szajda, Sławomir Dariusz: 5 articles (07/2014 - 09/2009)|
|4.||Chojnowska, Sylwia: 4 articles (07/2014 - 09/2010)|
|5.||Kępka, Alina: 4 articles (01/2014 - 01/2011)|
|6.||Sakuraba, Hitoshi: 4 articles (06/2011 - 01/2003)|
|7.||Mahuran, Don J: 4 articles (01/2011 - 04/2003)|
|8.||Zalewska, Anna: 3 articles (07/2014 - 01/2013)|
|9.||Szulc, Agata: 3 articles (07/2014 - 01/2012)|
|10.||Zalewska-Szajda, Beata: 3 articles (01/2014 - 01/2012)|
02/01/2014 - "Serum biochemistry detected a marked decrease in hexosaminidase A activity in the one lamb tested, when compared with the concentration in age matched controls and genetic analysis identified a mutation in the sheep hexa allele G444R consistent with Tay-Sachs disease in Jacob sheep in North America. "
05/01/2001 - "31Phosphorus magnetic resonance spectroscopy of the brain was performed to study the metabolic changes of a 16-year-old patient with late-onset Tay-Sachs disease who had a heterozygous Gly269-->Ser mutation in the hexosaminidase A encoding gene in compound heterozygosity with another, yet unidentified mutation. "
09/01/1981 - "These preliminary studies suggest that hexosaminidase A can be delivered to the brain by blood--brain barrier modification and may be indicative of the potential for enzyme replacement in patients who hae Tay--Sachs disease."
09/01/1981 - "The present studies were undertaken to evaluate the possibility that hexosaminidase A, the enzyme deficient in Tay--Sachs disease, could be effectively delivered to brain. "
01/01/1981 - "This study determines the long-term fate of human hexosaminidase A supplied to Tay-Sachs disease brain and lung cells. "
|2.||Thyroid Neoplasms (Thyroid Cancer)
11/01/2006 - "2. Determination of HEX A activity in serum may be helpful in diagnostics of thyroid cancer."
11/01/2006 - "Also specific activity of HEX A in serum of thyroid cancer patients is significantly higher in comparison to healthy men (p = 0.0393). "
11/01/2006 - "Protein was determined by biuret method and results were expressed in mg/mL. Concentration of HEX A activity in serum of thyroid cancer patients is significantly higherin comparison to healthymen (p = 0.0191). "
01/01/1992 - "Only the specific activities (as units of enzyme activity per min per microliter of GCF) of beta-mannosidase and hexosaminidase A were significantly different between the groups being greater in the gingivitis group. "
01/01/1992 - "In contrast, the total beta-mannosidase and hexosaminidase A activities were significantly greater in the gingivitis group, while there was no significant difference in the total alpha-mannosidase activity between the groups. "
|5.||GM2 Gangliosidoses (GM2 Gangliosidosis)
03/01/2008 - "GM2 gangliosidoses are a group of neuronal storage disorders caused by deficiency in the lysosomal enzyme hexosaminidase A. "
03/23/2007 - "We concluded that PYR functions as a mutation-specific PC, variably enhancing residual lysosomal Hex A levels in late-onset GM2 gangliosidosis patient cells."
06/06/1997 - "To confirm the relationship of the benign mutations and Hex A pseudodeficiency and to determine how the benign mutations reduce Hex A activity, we transiently expressed each of the benign mutations, and other mutations associated with infantile, juvenile, and adult onset forms of GM2 gangliosidosis, as Hex S (alphaalpha) and Hex A (alphabeta) in COS-7 cells. "
08/01/1996 - "Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene."
04/01/1995 - "GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A."
|6.||Glycoside Hydrolases (Endoglycosidases)
|8.||G(M2) Ganglioside (Ganglioside GM2)
|1.||Enzyme Replacement Therapy
|2.||Transplantation (Transplant Recipients)