Zobrazeno 1 - 10
of 455
pro vyhledávání: '"WATERHAM, HR"'
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 6, Iss Suppl 1, p S24 (2008)
Externí odkaz:
https://doaj.org/article/9f1ac016959b45abace9b411443080ce
Autor:
Gallagher, Renata, Ferdinandusse, S, Friederich, MW, Burlina, A, Ruiter, JPN, Coughlin, CR, Dishop, MK, Gallagher, RC, Bedoyan, JK, Vaz, FM, Waterham, HR
Publikováno v:
Gallagher, Renata; Ferdinandusse, S; Friederich, MW; Burlina, A; Ruiter, JPN; Coughlin, CR; et al.(2015). Clinical and biochemical characterization of four patients with mutations in ECHS1.. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/1sv4j5jf
Short-chain enoyl-CoA hydratase (SCEH, encoded by ECHS1) catalyzes hydration of 2-trans-enoyl-CoAs to 3(S)-hydroxy-acyl-CoAs. SCEH has a broad substrate specificity and is believed to play an important role in mitochondrial fatty acid oxidation and i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::8b39a73d8af7feac636175cbfbdc90f9
http://www.escholarship.org/uc/item/1sv4j5jf
http://www.escholarship.org/uc/item/1sv4j5jf
Heimler syndrome is caused by hypomorphic mutations in the peroxisome-biogenesis genes PEX1 and PEX6
Autor:
Ratbi, I, Falkenberg, KD, Sommen, M, Al-Sheqaih, N, Guaoua, S, Vandeweyer, G, Urquhart, JE, Chandler, KE, Williams, SJ, Roberts, NA, El Alloussi, M, Black, GC, Ferdinandusse, S, Ramdi, H, Heimler, A, Fryer, A, Lynch, S, Cooper, N, Ong, KR, Smith, CEL, Inglehearn, CF, Mighell, AJ, Elcock, C, Poulter, JA, Tischkowitz, M, Davies, SJ, Sefiani, A, Mironov, AA, Newman, WG, Waterham, HR, Van Camp, G
Publikováno v:
The American journal of human genetics
Ratbi, I, Falkenberg, K D, Sommen, M, Al-Sheqaih, N, Guaoua, S, Vandeweyer, G, Urquhart, J, Chandler, K E, Williams, S, Roberts, N, El Alloussi, M, Black, G, Ferdinandusse, S, Ramdi, H, Heimler, A, Fryer, A, Lynch, S-A, Cooper, N, Ong, K R, Smith, C E L, Inglehearn, C F, Mighell, A J, Elcock, C, Poulter, J A, Tischkowitz, M, Davies, S J, Sefiani, A, Mironov, A, Newman, W, Waterham, H R & Van Camp, G 2015, ' Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. ', American Journal of Human Genetics, vol. 97, no. 4, pp. 535-545 . https://doi.org/10.1016/j.ajhg.2015.08.011
American journal of human genetics, 97(4), 535-545. Cell Press
Ratbi, I, Falkenberg, K D, Sommen, M, Al-Sheqaih, N, Guaoua, S, Vandeweyer, G, Urquhart, J, Chandler, K E, Williams, S, Roberts, N, El Alloussi, M, Black, G, Ferdinandusse, S, Ramdi, H, Heimler, A, Fryer, A, Lynch, S-A, Cooper, N, Ong, K R, Smith, C E L, Inglehearn, C F, Mighell, A J, Elcock, C, Poulter, J A, Tischkowitz, M, Davies, S J, Sefiani, A, Mironov, A, Newman, W, Waterham, H R & Van Camp, G 2015, ' Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. ', American Journal of Human Genetics, vol. 97, no. 4, pp. 535-545 . https://doi.org/10.1016/j.ajhg.2015.08.011
American journal of human genetics, 97(4), 535-545. Cell Press
Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities and occasional or late onset retinal pigmentation. We ascertained eight families with HS, and - using a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7c7cfdea4a0813b99967b331b96a330c
https://hdl.handle.net/10067/1287660151162165141
https://hdl.handle.net/10067/1287660151162165141
Autor:
Frenkel, J, Houten, SM, Waterham, HR, Rijkers, GT, Duran, M, Kuijpers, TW, van Luijk, W, Poll-The, BT, Kuis, W
Publikováno v:
Rheumatology, 40(5), 579-584. Oxford University Press
Objectives. The hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) was found recently to be caused by a deficiency of mevalonate kinase (MK). The aim of this study was to examine whether a relationship exists between the clinical expressio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::ce86d23517de93c4fd6add72b6dfb6f4
https://research.rug.nl/en/publications/a4d504c7-577a-4b53-a1f7-2a07eb56840c
https://research.rug.nl/en/publications/a4d504c7-577a-4b53-a1f7-2a07eb56840c
Autor:
Vaz, FM, Scholte, Jasper, Ruiter, J, Odijk, Lidia, Rodrigues Pereira, R, Schweitzer, S, Klerk, Hans, Waterham, HR, Wanders, RJA
Publikováno v:
Human Genetics, 105, 157-161. Springer-Verlag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::3ee820970ef458021e54e900fac1262a
https://pure.eur.nl/en/publications/c549134f-54cf-48bc-a331-f2c40e00cad7
https://pure.eur.nl/en/publications/c549134f-54cf-48bc-a331-f2c40e00cad7
Autor:
Waterham, HR, DeVries, Y, Russell, KA, Xie, WQ, Veenhuis, M, Cregg, JM, Reddy, JK, Suga, T, Mannaerts, GP, Lazarow, PB, Subrammani, S
Publikováno v:
PEROXISOMES: BIOLOGY AND ROLE IN TOXICOLOGY AND DISEASE, 773-774
STARTPAGE=773;ENDPAGE=774;TITLE=PEROXISOMES: BIOLOGY AND ROLE IN TOXICOLOGY AND DISEASE
STARTPAGE=773;ENDPAGE=774;TITLE=PEROXISOMES: BIOLOGY AND ROLE IN TOXICOLOGY AND DISEASE
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::7d44f079d94061cf4d2fb059c2e0b3cf
https://research.rug.nl/en/publications/a9fa7cbf-a8b4-45e3-8d14-96abd18a2bf4
https://research.rug.nl/en/publications/a9fa7cbf-a8b4-45e3-8d14-96abd18a2bf4
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