Zobrazeno 1 - 10
of 321
pro vyhledávání: '"Amaurotic idiocy"'
Publikováno v:
Free Neuropathology, Vol 4 (2023)
On February 23rd 1936, a boy-child (“Kn”) died in an asylum near Munich after years of severe congenital dis-ease, which had profoundly impaired his development leading to inability to walk, talk and see as well as to severe epilepsy. While a dia
Externí odkaz:
https://doaj.org/article/d35e32bf5879404fb32a37a016b9c018
Akademický článek
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Autor:
Timothy M. Cox
Publikováno v:
Clinical Medicine. 12:s33-s36
Tay-Sachs disease was one of the first lysosomal diseases to be described as a clinical entity.[1][1],[2][2] Originally classified as a cause of ‘familial amaurotic idiocy’, this devastating neurodegenerative disorder was first noted in Jewish in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e12dd1e8ea5f45eb774b4464bbd599dd
https://doi.org/10.7861/clinmedicine.12-6-s33
https://doi.org/10.7861/clinmedicine.12-6-s33
Autor:
Torsten Sjögren
Publikováno v:
Hereditas. 14:197-425
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0d13db3fb74e92a76f120cca9d40f45c
https://doi.org/10.1111/j.1601-5223.1931.tb02535.x
https://doi.org/10.1111/j.1601-5223.1931.tb02535.x
Autor:
Eric Ericsson, Einar Sjövall
Publikováno v:
Acta Pathologica Microbiologica Scandinavica. 10:460-471
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7184cd637d5b805c2186908705b40e0d
https://doi.org/10.1111/j.1600-0463.1933.tb06353.x
https://doi.org/10.1111/j.1600-0463.1933.tb06353.x
Publikováno v:
Acta Pathologica Microbiologica Scandinavica Series A :Pathology. :119-125
A case of congenital neuronal ceroid lipofuscinosis, a 9-day-old male child of Pakistani parents, is reported. Only 5 congenital cases have been described previously. The cerebral and cerebellar cortex showed extensive nerve-cell loss. Granular mater
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b67190ae68025de8174176434745040
https://doi.org/10.1111/j.1699-0463.1987.tb00017_95a.x
https://doi.org/10.1111/j.1699-0463.1987.tb00017_95a.x
Autor:
L. Svennerholm, Lennart Zettergren
Publikováno v:
Acta Pathologica Microbiologica Scandinavica. 41:127-134
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::59880799fe4c42cf15ffdade16230cd8
https://doi.org/10.1111/j.1699-0463.1957.tb01008.x
https://doi.org/10.1111/j.1699-0463.1957.tb01008.x
Autor:
Bjørn Bergaust
Publikováno v:
Acta Ophthalmologica. 40:202-205
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d30224d9a46abb9716e533f55c774f82
https://doi.org/10.1111/j.1755-3768.1962.tb05436.x
https://doi.org/10.1111/j.1755-3768.1962.tb05436.x
Autor:
Kristian Gilje, August J. Nissen
Publikováno v:
Acta Ophthalmologica. 35:184-189
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0d4185b362154a5aaca462cdac33cf99
https://doi.org/10.1111/j.1755-3768.1957.tb05401.x
https://doi.org/10.1111/j.1755-3768.1957.tb05401.x
Autor:
Hans C. Lou, Kirsten Kristensen
Publikováno v:
Developmental Medicine & Child Neurology. 15:313-323
SUMMARY The 28 cases of juvenile amaurotic idiocy (jai) in Denmark were investigated. The clinical neurological examination confirmed the importance of cerebellar and extrapyramidal symptoms, but other symptoms were also often present. By means of a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f16d16e8872d98a1718cf8231b2240c5
https://doi.org/10.1111/j.1469-8749.1973.tb04888.x
https://doi.org/10.1111/j.1469-8749.1973.tb04888.x