Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Donna E. Roth"'
Publikováno v:
Proceedings of the National Academy of Sciences. 89:1804-1808
Deficiency of carbonic anhydrase II (carbonate hydro-lyase, EC 4.2.1.1) is the primary defect in the syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification. In this report we describe the molecular basis for carbonic anhydrase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a78e41c5b350bfec07a9244bf35a408
https://doi.org/10.1073/pnas.89.5.1804
https://doi.org/10.1073/pnas.89.5.1804
Autor:
Patrick J. Venta, Donna E. Roth, Pierre Guibaud, William S. Sly, Laura A. Skaggs, Peiyi Y. Hu, Richard E. Tashian
Publikováno v:
Human Mutation. 1:288-292
Clinical manifestations in patients with carbonic anhydrase (CA) II deficiency include osteopetrosis, renal tubular acidosis, and cerebral calcification. Of the 39 reported cases of the carbonic anhydrase II deficiency syndrome, 72% were patients fro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8137b31718980c08a024044830aea91b
https://doi.org/10.1002/humu.1380010404
https://doi.org/10.1002/humu.1380010404
Publikováno v:
International Journal of Dermatology. 31:441-442
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22b8b6373491748da90b425341a6a8f3
https://doi.org/10.1111/j.1365-4362.1992.tb02682.x
https://doi.org/10.1111/j.1365-4362.1992.tb02682.x
Publikováno v:
Journal of the American Academy of Dermatology. 21:1152-1156
A case of annular lipoatrophy of the ankles in a 4-year-old girl is presented. Histologically a lobular lymphohistiocytic panniculitis with masses of foam cells was present. This pattern resembles that seen in atrophic connective tissue panniculitis.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9ed5f2fda4d56b5c250b97426d49bcc
https://doi.org/10.1016/s0190-9622(89)70321-2
https://doi.org/10.1016/s0190-9622(89)70321-2
Publikováno v:
Medical Clinics of North America. 73:1275-1298
Cutaneous reactions to medications probably represent the most common manifestation of drug reactions. The diversity of cutaneous eruptions produced by drugs provide a challenge in searching for the mechanisms producing the reaction. Many eruptions a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dccc5c88282e58b6edca6905478628a4
https://doi.org/10.1016/s0025-7125(16)30634-4
https://doi.org/10.1016/s0025-7125(16)30634-4
Publikováno v:
Journal of the American Academy of Dermatology. 20:950-954
A patient who developed lentigines after prolonged ultraviolet A (UVA) exposure in a tanning booth is described. The patient had no exposure to psoralens or furocoumarins. Histologic examination of a representative lentigo revealed melanocytic hyperp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d62b074043185fdddaefa26713a8dde
https://doi.org/10.1016/s0190-9622(89)70117-1
https://doi.org/10.1016/s0190-9622(89)70117-1
Publikováno v:
Journal of the American Academy of Dermatology. 19:393-396
A case of dysplastic nevus syndrome in a 41-year-old tyrosinase-positive oculocutaneous albino man is presented. Clinically the patient exhibited multiple amelanotic lesions; histologic examination provided the diagnosis of dysplastic nevus syndrome.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37a7ea04e6f66bed30b65b54b4cf6a4a
https://doi.org/10.1016/s0190-9622(88)70185-1
https://doi.org/10.1016/s0190-9622(88)70185-1
Autor:
Hu, Peiyi Y., Roth, Donna E., Skaggs, Laura A., Venta, Patrick J., Tashian, Richard E., Guibaud, Pierre, Sly, William S.
Publikováno v:
Human Mutation; 1992, Vol. 1 Issue 4, p288-292, 5p
Publikováno v:
Pediatric Dermatology; Dec1989, Vol. 6 Issue 4, p321-324, 4p
Publikováno v:
International Journal of Dermatology; Jun1992, Vol. 31 Issue 6, p441-442, 2p