Zobrazeno 1 - 10
of 54
pro vyhledávání: '"E. Vamos-Hurwitz"'
Publikováno v:
Acta Paediatrica. 67:113-119
A case of Farber's disease associated with athyreosis is reported in a Belgian infant born from consanguineous parents. A detailed clinical observation made from the early onset of symptoms until death of the patient at age of 22 months, together wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99a92edd8b2b492d5da1b19d840fc2d2
https://doi.org/10.1111/j.1651-2227.1978.tb16287.x
https://doi.org/10.1111/j.1651-2227.1978.tb16287.x
Publikováno v:
The Journal of Pediatrics. 79:366-378
A description is given of a boy who presented early and severe clinical and radiological signs of chondrodystrophy without increased mucopolysacchariduria. Liver acid β-galactosidase activity was decreased. Ultrastructural studies disclosed the pres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12468876247e3d46c7f5fc50a59a01d4
https://doi.org/10.1016/s0022-3476(71)80143-9
https://doi.org/10.1016/s0022-3476(71)80143-9
Publikováno v:
Acta Paediatrica. 64:865-867
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e78513b4428a7c9466e61732775fa4e1
https://doi.org/10.1111/j.1651-2227.1975.tb03938.x
https://doi.org/10.1111/j.1651-2227.1975.tb03938.x
Publikováno v:
Bruxelles medical. 54(10)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0476f3ff1de7d3786916bafb157be3d8
https://pubmed.ncbi.nlm.nih.gov/4434238
https://pubmed.ncbi.nlm.nih.gov/4434238
Publikováno v:
Acta paediatrica Belgica. 29(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a37fe9edd5ae5c7a76a95a7645565405
https://pubmed.ncbi.nlm.nih.gov/826105
https://pubmed.ncbi.nlm.nih.gov/826105
Autor:
E, Vamos-Hurwitz, P, Petit, I, Liebaers, M, Mathy, F, Rodesch, C, Delhaye, F, Hayez, I M, Mandelbaum
Publikováno v:
Acta paediatrica Belgica. 29(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8e9cfbdbabd88d52fe2ae0f49f70f2e7
https://pubmed.ncbi.nlm.nih.gov/998223
https://pubmed.ncbi.nlm.nih.gov/998223
Publikováno v:
Laboratory investigation; a journal of technical methods and pathology. 36(5)
In a case of Farber's disease, lysosomal inclusions were shown to contain lamellar, rectilinear, or curvilinear material. In tissue culture, when fibroblasts from the patient were overloaded with ceramides containing nonhydroxylated fatty acids a lys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cad46211ae38a6996b91a6b17f9f90a2
https://pubmed.ncbi.nlm.nih.gov/194109
https://pubmed.ncbi.nlm.nih.gov/194109
Publikováno v:
Bulletin de l'Academie royale de medecine de Belgique. 13(9)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7699010e814ffc2f305ebe1b6d81f730
https://pubmed.ncbi.nlm.nih.gov/4479365
https://pubmed.ncbi.nlm.nih.gov/4479365
Autor:
A, Tumba, E, Vamos-Hurwitz
Publikováno v:
Comptes rendus hebdomadaires des seances de l'Academie des sciences. Serie D: Sciences naturelles. 283(9)
Addition of exogen DB-c AMP in medium of human fibroblasts culture, with 46 XX karyotypes, enables us to observe a high frequency of Barr bodies, about 80 or 85%. This observation suggests that the condensation of the X chromosome in the form of Barr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cc4e0b762bcd326e6dd44591f16e9ce2
https://pubmed.ncbi.nlm.nih.gov/187357
https://pubmed.ncbi.nlm.nih.gov/187357
Publikováno v:
Bulletins et memoires de la Societe francaise d'ophtalmologie. 89
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0640f9f4805124d32b2d2041647d27da
https://pubmed.ncbi.nlm.nih.gov/610815
https://pubmed.ncbi.nlm.nih.gov/610815