Zobrazeno 1 - 10
of 250
pro vyhledávání: '"P M, Steijlen"'
Autor:
Esther H. A. van den Bogaart, Mariëlle E. A. L. Kroese, Marieke D. Spreeuwenberg, Herm Martens, Peter M. Steijlen, Dirk Ruwaard
Publikováno v:
BMC Health Services Research, Vol 20, Iss 1, Pp 1-10 (2020)
Abstract Background The substitution of healthcare is a way to control rising healthcare costs. The Primary Care Plus (PC+) intervention of the Dutch ‘Blue Care’ pioneer site aims to achieve this feat by facilitating consultations with medical sp
Externí odkaz:
https://doaj.org/article/e58d2816db0c4c699a6c9c310694d046
Autor:
Pippa Staps, Judith vanGaalen, Peter. vanDomburg, Peter M. Steijlen, Sacha Ferdinandusse, Tom denHeijer, Marieke M. B. Seyger, Thomas Theelen, Michèl A. A. P. Willemsen
Publikováno v:
JIMD Reports, Vol 53, Iss 1, Pp 61-70 (2020)
Abstract Sjögren‐Larsson syndrome (SLS) is a rare inborn error of lipid metabolism. The syndrome is caused by mutations in the ALDH3A2 gene, resulting in a deficiency of fatty aldehyde dehydrogenase. Most patients have a clearly recognizable sever
Externí odkaz:
https://doaj.org/article/531ae1bf8f2341ba8c7bca4f33ec208e
Publikováno v:
Proceedings of the Society for Experimental Biology and Medicine. 223:1-7
Autor:
Gerard Pals, P. M. Steijlen, Godfried H.J. Boers, P. W. J. Van Dongen, Ben C.J. Hamel, E. van den Akker, C. H. A. M. Engels
Publikováno v:
Clinical Genetics. 53:440-446
Ehlers Danlos syndrome (EDS) comprises ten types. EDS IV is the most severe type because of its often lethal complications, such as arterial rupture. EDS IV is caused by an abnormality of collagen type III as a result of mutations in the correspondin
Autor:
R G L, Nellen, P M, Steijlen, H C, Hennies, J, Fischer, C S, Munro, M F, Jonkman, M A M, van Steensel, M, van Geel
Publikováno v:
The British journal of dermatology. 168(6)
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
Autor:
L J M T, Parren, F, Abuzahra, T, Wagenvoort, F, Koene, M A M, Van Steensel, P M, Steijlen, M, Van Geel, J, Frank
Publikováno v:
The British journal of dermatology. 165(1)
Autor:
E A, de Zwart-Storm, M, van Geel, E, Veysey, S, Burge, S, Cooper, P M, Steijlen, P E, Martin, M A M, van Steensel
Publikováno v:
The British journal of dermatology. 164(1)
Gap junctions are intercellular channels which are permeable to ions and small molecules up to about 1 kDa in size. They are prominent in the skin, but their precise function there is largely unknown. Mutations in skin-expressed gap junction genes di
Publikováno v:
The British journal of dermatology. 163(1)
Neonatal ichthyosis-sclerosing cholangitis (NISCh) syndrome is a rare autosomal recessive disorder associated with scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. It is caused by homozygous mutations in the CLDN1 gene c
Publikováno v:
Journal of the European Academy of Dermatology and Venereology : JEADV. 25(5)
Focal dermal hypoplasia (FDH) is an X-linked dominant disorder caused by nonsense mutations and deletions in the PORCN gene coding for a transmembrane endoplasmic reticulum protein required for Wingless signalling. Symptoms consist mainly of linear a