FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000723432> ?p ?o ?g. }

• W2000723432 endingPage "31" @default.
• W2000723432 startingPage "25" @default.
• W2000723432 abstract "Tay-Sachs disease is a genetically determined neurodegenerative disorder, resulting from mutations of the hexosaminidase (Hex) A gene coding for the alpha-subunit of beta-D-N-acetyl-hexosaminidase. Clinically, there is severe encephalomyelopathy leading to death within the first few years of life. Hex A activity is usually absent in tissue and body fluids of these patients. Juvenile and adult Hex A deficiencies are less severe but rare variants with some residual Hex A activity. All these variants are most prevalent among Ashkenazi Jews. We describe a non-Jewish family in which four adult brothers and sisters had markedly reduced Hex A activities and onset of symptoms in the second decade of life. The phenotypical expression was remarkably homogeneous, consisting in a combination of slowly progressive motor neuron disease, ataxia and ocular motor disturbances. None of the patients were demented at this stage of their illness. Magnetic resonance studies showed severe cerebellar atrophy, but were otherwise normal. Hex A deficiency was established by biochemical measurements in the serum and skin fibroblasts using the fluorogenic substrates 4-MUG and 4-MUGS as well as by gel electrophoresis. Molecular genetic studies revealed that the patients are compound heterozygotes for the 'adult' mutation Gly269 --> Ser and the 'infantile' 4-base insertion in exon 11 of the Hex A gene." @default.
• W2000723432 created "2016-06-24" @default.
• W2000723432 creator A5004443834 @default.
• W2000723432 creator A5019926008 @default.
• W2000723432 creator A5029270411 @default.
• W2000723432 creator A5033066253 @default.
• W2000723432 creator A5038948502 @default.
• W2000723432 creator A5054520450 @default.
• W2000723432 creator A5065739718 @default.
• W2000723432 creator A5079084775 @default.
• W2000723432 creator A5084051379 @default.
• W2000723432 creator A5091291475 @default.
• W2000723432 date "1997-01-01" @default.
• W2000723432 modified "2023-10-01" @default.
• W2000723432 title "Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings" @default.
• W2000723432 cites W1510679795 @default.
• W2000723432 cites W1972799561 @default.
• W2000723432 cites W1979282572 @default.
• W2000723432 cites W1989518064 @default.
• W2000723432 cites W1994851104 @default.
• W2000723432 cites W1996445567 @default.
• W2000723432 cites W2002466484 @default.
• W2000723432 cites W2006901072 @default.
• W2000723432 cites W2026522918 @default.
• W2000723432 cites W2036009346 @default.
• W2000723432 cites W2039908010 @default.
• W2000723432 cites W2041243186 @default.
• W2000723432 cites W2048630410 @default.
• W2000723432 cites W2055283788 @default.
• W2000723432 cites W2062352964 @default.
• W2000723432 cites W2071008565 @default.
• W2000723432 cites W2073045617 @default.
• W2000723432 cites W2073613482 @default.
• W2000723432 cites W2076482829 @default.
• W2000723432 cites W2077539418 @default.
• W2000723432 cites W2079920195 @default.
• W2000723432 cites W2080532583 @default.
• W2000723432 cites W2084120966 @default.
• W2000723432 cites W2090856892 @default.
• W2000723432 cites W2096867340 @default.
• W2000723432 cites W2099417986 @default.
• W2000723432 cites W2100282983 @default.
• W2000723432 cites W2103192502 @default.
• W2000723432 cites W2113671795 @default.
• W2000723432 cites W2119041605 @default.
• W2000723432 cites W2139649971 @default.
• W2000723432 cites W2203880902 @default.
• W2000723432 doi "https://doi.org/10.1016/s0022-510x(96)00233-x" @default.
• W2000723432 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9073025" @default.
• W2000723432 hasPublicationYear "1997" @default.
• W2000723432 type Work @default.
• W2000723432 sameAs 2000723432 @default.
• W2000723432 citedByCount "38" @default.
• W2000723432 countsByYear W20007234322012 @default.
• W2000723432 countsByYear W20007234322013 @default.
• W2000723432 countsByYear W20007234322014 @default.
• W2000723432 countsByYear W20007234322015 @default.
• W2000723432 countsByYear W20007234322018 @default.
• W2000723432 countsByYear W20007234322020 @default.
• W2000723432 countsByYear W20007234322021 @default.
• W2000723432 countsByYear W20007234322022 @default.
• W2000723432 countsByYear W20007234322023 @default.
• W2000723432 crossrefType "journal-article" @default.
• W2000723432 hasAuthorship W2000723432A5004443834 @default.
• W2000723432 hasAuthorship W2000723432A5019926008 @default.
• W2000723432 hasAuthorship W2000723432A5029270411 @default.
• W2000723432 hasAuthorship W2000723432A5033066253 @default.
• W2000723432 hasAuthorship W2000723432A5038948502 @default.
• W2000723432 hasAuthorship W2000723432A5054520450 @default.
• W2000723432 hasAuthorship W2000723432A5065739718 @default.
• W2000723432 hasAuthorship W2000723432A5079084775 @default.
• W2000723432 hasAuthorship W2000723432A5084051379 @default.
• W2000723432 hasAuthorship W2000723432A5091291475 @default.
• W2000723432 hasConcept C104317684 @default.
• W2000723432 hasConcept C111204789 @default.
• W2000723432 hasConcept C12125453 @default.
• W2000723432 hasConcept C126322002 @default.
• W2000723432 hasConcept C134018914 @default.
• W2000723432 hasConcept C142724271 @default.
• W2000723432 hasConcept C15744967 @default.
• W2000723432 hasConcept C169760540 @default.
• W2000723432 hasConcept C181199279 @default.
• W2000723432 hasConcept C2777878887 @default.
• W2000723432 hasConcept C2778098279 @default.
• W2000723432 hasConcept C2779134260 @default.
• W2000723432 hasConcept C2779652256 @default.
• W2000723432 hasConcept C2780148635 @default.
• W2000723432 hasConcept C2780906641 @default.
• W2000723432 hasConcept C36823959 @default.
• W2000723432 hasConcept C501734568 @default.
• W2000723432 hasConcept C54355233 @default.
• W2000723432 hasConcept C55493867 @default.
• W2000723432 hasConcept C71924100 @default.
• W2000723432 hasConcept C86803240 @default.
• W2000723432 hasConceptScore W2000723432C104317684 @default.
• W2000723432 hasConceptScore W2000723432C111204789 @default.
• W2000723432 hasConceptScore W2000723432C12125453 @default.
• W2000723432 hasConceptScore W2000723432C126322002 @default.

• next