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Autor:
J Frank, P Poblete-Gutiérrez
Publikováno v:
Der Hautarzt. 62:98-106
Hereditary metabolic diseases are very diverse with variable pathogenetic mechanisms and clinical findings. They can manifest in different organs and, in this respect, dermatologists may play a crucial role in making the right diagnosis if they know
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8dead3d58023b94afe99fde5727fcb0f
https://doi.org/10.1007/s00105-010-2051-3
https://doi.org/10.1007/s00105-010-2051-3
Autor:
J Frank, P Poblete-Gutiérrez
Publikováno v:
Journal of Internal Medicine. 269:270-274
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::788fcc0255a0b4b0e67acef4899f17bc
https://doi.org/10.1111/j.1365-2796.2010.02283.x
https://doi.org/10.1111/j.1365-2796.2010.02283.x
Autor:
P, Poblete-Gutiérrez, T, Wiederholt, A, Martinez-Mir, H F, Merk, J M, Connor, A M, Christiano, J, Frank
Publikováno v:
Physiological Research. :S137-S144
The porphyrias arise from predominantly inherited catalytic deficiencies of specific enzymes in heme biosynthesis. All genes encoding these enzymes have been cloned and several mutations underlying the different types of porphyrias have been reported
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9565ac85d788b0615798158e4d70da0
https://doi.org/10.33549/physiolres.930000.55.s2.137
https://doi.org/10.33549/physiolres.930000.55.s2.137
Publikováno v:
HG Zeitschrift fur Hautkrankheiten. 77:265-275
Zusammenfassung: Bei den Porphyrien handelt es sich um eine aufgrund ihres Facettenreichtums faszinierende Gruppe metabolischer Erkrankungen, die aus Funktionsstorungen der Ham-Biosynthese resultieren, wobei der jeweils vorherrschende Enzymdefekt ent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8bb82be3e41e6c187f1ad6be0e42b194
https://doi.org/10.1046/j.1439-0353.2002.02101.x
https://doi.org/10.1046/j.1439-0353.2002.02101.x
An improved and rapid method to construct skin equivalents from human hair follicles and fibroblasts
Autor:
Hans F. Merk, Jorge Frank, Thomas C. Roos, Frank K. Jugert, D. Hoeller, Berthold Huppertz, P. Poblete Gutiérrez
Publikováno v:
Experimental Dermatology. 10:264-271
To produce sufficient amounts of high quality skin equivalents (SE), either allogenic for dermatopharmacological and dermatotoxicological studies or autologous for transplantation purposes, we established a rapid, easy and cost effective three-dimens
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e19bb339c33b5181e0e7228069c9b6f0
https://doi.org/10.1034/j.1600-0625.2001.100406.x
https://doi.org/10.1034/j.1600-0625.2001.100406.x
Publikováno v:
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete. 64(11)
Patients suffering from hair loss or undesirable excessive hair growth are a challenge for dermatologists because the pathogenesis of most hair diseases is not well understood and therapeutic options are limited. This particularly holds true for gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::886437f63437ddf975ac3041d72c7ec8
https://pubmed.ncbi.nlm.nih.gov/24177665
https://pubmed.ncbi.nlm.nih.gov/24177665
Autor:
A M, van Tuyll van Serooskerken, B I, Drögemöller, K, Te Velde, R S, Bladergroen, P M, Steijlen, P, Poblete-Gutiérrez, M, van Geel, C J, van Heerden, L, Warnich, J, Frank
Publikováno v:
The British journal of dermatology. 166(2)
Variegate porphyria (VP) is due to a partial deficiency of protoporphyrinogen oxidase (PPOX), the seventh enzyme in the haem biosynthetic pathway. Clinically, VP is characterized by photosensitivity and acute neurovisceral attacks that can manifest s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::81f370fe7f8684a71fdfc07bd698049f
https://pubmed.ncbi.nlm.nih.gov/22268855
https://pubmed.ncbi.nlm.nih.gov/22268855
Autor:
J, Frank, P, Poblete-Gutiérrez
Publikováno v:
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete. 62(2)
Hereditary metabolic diseases are very diverse with variable pathogenetic mechanisms and clinical findings. They can manifest in different organs and, in this respect, dermatologists may play a crucial role in making the right diagnosis if they know
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4a83113dd2e187489085da4c8b2c9af7
https://pubmed.ncbi.nlm.nih.gov/21279311
https://pubmed.ncbi.nlm.nih.gov/21279311
Autor:
A M, Van Tuyll Van Serooskerke, X, Schneider-Yin, R J, Schimmel, R S, Bladergroen, P, Poblete-Gutiérrez, J, Barman, M, van Geel, J, Frank, E I, Minder
Publikováno v:
Cellular and molecular biology (Noisy-le-Grand, France). 55(2)
Variegate porphyria (VP), one of the acute hepatic porphyrias, results from an autosomal dominantly inherited deficiency of protoporphyrinogen oxidase (PPOX), the seventh enzyme in heme biosynthesis. Affected individuals can develop both cutaneous sy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::445a6b82f3a8f493471883b9156bcba8
https://pubmed.ncbi.nlm.nih.gov/19656457
https://pubmed.ncbi.nlm.nih.gov/19656457