KSIĄŻKI POWIĄZANE ZE SŁOWEM «HEXOSAMINIDASE»
Poznaj użycie słowa
hexosaminidase w następujących pozycjach bibliograficznych Książki powiązane ze słowem
hexosaminidase oraz krótkie ich fragmenty w celu przedstawienia kontekstu użycia w literaturze.
1
A Manual of Laboratory and Diagnostic Tests
Hexosaminidase A is used as a diagnostic test for Tay-Sachs disease and can he
of help in identifying carriers among persons with no family history of Tay-Sachs.
This condition is due to an autosomal recessive trait found predominantly, hut ...
Frances Talaska Fischbach, Marshall Barnett Dunning, 2009
2
Biochemical Basis of Inherited Human Disease
Hexosaminidase A and hexosaminidase B were quantified by a method which
exploits the different thermal stabilities of each [7j. This method, devised for
human serum, was used e;-5entially unchanged lor fibroblasts except lor the
addition oi ...
Immunologic studies also pointed to a structural relationship between hexos-
aminidases A and B, prompting Srivastava and Beutler (1973) to propose the
existence of two subunits, and , with hexosaminidase A being a heteropolymer of
and ...
4
Genetic Disorders and the Fetus: Diagnosis, Prevention and ...
hexosaminidase. A. have. been. described.68179. Juvenile. patients. usually.
present. between 2 and 8 years of age with ataxia and progressive psychomotor
retardation. Loss of speech, progressive spasticity, athetoid posturing of hands
and ...
Aubrey Milunsky, Jeff Milunsky, 2011
5
Oski's Pediatrics: Principles & Practice
Beta-hexosaminidase has two subunits, alpha and beta, which are the products
of two separate genetic loci, HEXA and HEXB, located on chromosomes 15 and
5, respectively. The isoenzymes of beta-hexosaminidase are composed of ...
Julia A. McMillan, Ralph D. Feigin, Catherine DeAngelis, 2006
6
Clinical Biochemistry: Metabolic and Clinical Aspects
Hexosaminidase deficiency (GM2 gangliosidoses) This group of conditions
ischaracterizedby accumulation ofGM2 ganglioside and glycosphingolipids
withinneuronalcells(and othercelltypes)owingto a genetically determined
deficiency of the ...
William J. Marshall, Márta Lapsley, Andrew Day, 2014
7
Marks' Basic Medical Biochemistry: A Clinical Approach
Its presence can be discovered by measuring the tissue level of the protein
produced by the gene (hexosaminidase A) or by recombinant DNA techniques.
Skin fibroblasts of concerned couples planning a family are frequently used for
these ...
Michael Lieberman, Allan D. Marks, 2009
8
Lippincott's Illustrated Q&A Review of Biochemistry
The hexosaminidase A gene encodes the hex A protein, and the
hexosaminidase B gene encodes the hex B protein. Hexosaminidase A activity
requires a complex of hex A and hex B proteins; hexosaminidase B activity only
requires a ...
Michael Lieberman, Rick E. Ricer, 2009
9
Mosby's Canadian Manual of Diagnostic and Laboratory Tests
A,. Hex. A,. Total. Hexosaminidase,. Hexosaminidase. A. andB). Normal. Findings
. Hexosaminidase A: 7.5–9.8 U/L Total hexosaminidase: 9.9–15.9 U/L Check with
the laboratory because there is a wide variety of testing methods.
Kathleen Deska Pagana, Timothy J. Pagana, Sandra MacDonald, 2012
10
Cerebellar Degenerations: Clinical Neurobiology: Clinical ...
Purification, biochemical and immunological characterization of hexosaminidase
A from variant AB of infantile Gm2 gangliosidosis. Eur. J. Biochem. 84:27-33. 82.
Conzelmann E., SandhotTK. (1978). AB variant of infantile GM2 gangliosidosis: ...
WIADOMOŚCI, KTÓRE ZAWIERAJĄ SŁOWO «HEXOSAMINIDASE»
Sprawdź, o czym dyskutuje się w prasie krajowej i zagranicznej oraz jak jest stosowane słowo
hexosaminidase w wiadomościach.
Well | Think Like a Doctor: Taking a Stand Solved
Some mutations will prevent the body from making any of the essential chemical, called hexosaminidase A, resulting in the infant form of the ... «New York Times, Maj 15»
Tay-Sachs and the Irish Community
It's caused by the lack of hexosaminidase A (HEXA)—one of those things you don't know about until it causes problems. In normal bodies ... «Mainline Today, Lut 15»
biOasis Technologies Attracts AstraZeneca (AZN), AbbVie (ABBV) to …
... animals deficient in the enzyme β-hexosaminidase subunit beta (“HEXB”), which is functionally deficient in sufferers of Sandhoff Disease. «Midas Letter, Sty 15»
biOasis Advances Its Lysosomal Storage Disease Program with a …
... animals deficient in the enzyme β-hexosaminidase subunit beta ("HEXB"), which is functionally deficient in sufferers of Sandhoff Disease. «Marketwired, Wrz 14»
1000 New York Irish to get tested for Tay Sachs disease gene
It is caused by the mutation of a gene called Hexosaminidase A, which causes a fatty substance to accumulate in the brain, eventually ravaging ... «IrishCentral, Sie 14»
Tay-Sachs screening urged for the Irish
The disease is caused by mutations in a gene called hexosaminidase A, or Hex-A. Without the enzyme, a fatty substance accumulates in brain ... «The Journal News | LoHud.com, Sie 14»
An Infant With Poor Visual Response
(b) Indirect ophthalmoscopy of the left eye. He was referred for genetic testing and found to be homozygous for a hexosaminidase B variant. «Medscape, Lip 14»
Kirsten Brown of Tallahassee Earns Prestigious Goldwater …
... assistant professor of chemistry, to investigate a hexosaminidase enzyme known as OGA. Brown brings a unique computational approach to ... «ReadMedia, Kwi 14»
Extreme Mothering: When A Child Has A Relentless Disease
... which results in a deficiency of the Hexosaminidase A enzyme and the subsequent build up of a damaging fatty substance in brain cells. «WBUR, Lis 13»
Genetic Diseases Affecting Ashkenazi Jews
Tay-Sachs disease is caused by the congenital absence of a vital enzyme, hexosaminidase-A. Without the enzyme, the body cannot break ... «Jewish Daily Forward, Sie 13»
