Zobrazeno 1 - 10 of 16 pro vyhledávání: '"diagnosis and treatment (till October 1, 1996) [Hyperhomocysteinemia]"'
2
A candidate genetic risk factor for vascular disease : a common mutation in methylenetetrahydrofolate reductase
Autor: P. Frosst, Renate Milos, Rowena G. Matthews, Rima Rozen, Philippe Goyette, Henk J. Blom, Christal A. Sheppard, Leo A. J. Kluijtmans, M. den Heijer, G. J.H. Boers, L.P.W.J. van den Heuvel
Publikováno v: Nature Genetics, 10, 111-113
Nature Genetics, 10, pp. 111-113
Nature Genetics, 10, 1, pp. 111-113
Hyperhomocysteinaemia has been identified as a risk factor for cerebrovascular, peripheral vascular and coronary heart disease. Elevated levels of plasma homocysteine can result from genetic or nutrient-related disturbances in the trans-sulphuration
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8eb93da17468691046f73ce057e9d79
https://hdl.handle.net/2066/22247
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3
Delay in diagnosis of homocystinuria: retrospective study of consecutive patients
Autor: G.H.J. Boers, A.F. Deutman, J.R.M. Cruysberg, J.M.F. Trijbels
Publikováno v: Bmj. British Medical Journal (Compact Ed.), 313, pp. 1037-1040
Bmj. British Medical Journal (Compact Ed.), 313, 1037-1040
Bmj. British Medical Journal (Compact Ed.), 313, 7064, pp. 1037-1040
Objective: To assess the causes for delay in the diagnosis of homocystinuria. Design: Clinical and laboratory data were collected from patients diagnosed as having homocystinuria due to cystathionine synthase deficiency, with special reference to the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25310d7b720b61d3574e6eb59854d768
https://pubmed.ncbi.nlm.nih.gov/9040342
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4
Evidence for McKusick's hypothesis of deficient collagen cross-linking in patients with homocystinuria
Autor: T. Lubec, Henk J. Blom, Godfried H.J. Boers, B. Lubec, S. Fang-Kircher
Publikováno v: Biochimica et Biophysica Acta, 1315, 159-162
Biochimica et Biophysica Acta, 1315, pp. 159-162
Biochimica et Biophysica Acta, 1315, 3, pp. 159-162
Osteoporosis occurs commonly in homocystinuria. The underlying pathobiochemical mechanism remains unclear; disturbed cross-linking of collagen has been suggested but this hypothesis has not been fully tested, nor have studies on collagen synthesis be
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b918efba6510807b829015b968b161a
https://pubmed.ncbi.nlm.nih.gov/8611653
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5
The crystalline lens as a reflection of hereditary and metabolic disease
Autor: Cruysberg, J.R.M.
Contains fulltext : mmubn000001_235348732.pdf (Publisher’s version ) (Open Access) Promotores : A. Deutman, G. Boers en A. Pinckers 223 p.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::25d936ec24af437cae0d69fd865391bc
http://hdl.handle.net/2066/256047
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6
Hyperhomocysteinemia: a risk factor for placental abruption of infarction
Autor: E.F. van der Molen, Tom K.A.B. Eskes, T.A.W. Goddijn-Wessel, M.D.H.E. Spuijbroek, Henk J. Blom, Godfried H.J. Boers, Maurice G.A.J. Wouters, Régine P.M. Steegers-Theunissen
Publikováno v: European Journal of Obstetrics & Gynecology and Reproductive Biology, 66, 23-29
European Journal of Obstetrics & Gynecology and Reproductive Biology, 66, pp. 23-29
To establish the prevalence of hyperhomocysteinemia in women with placental abruption or infarction.Forty-six women with normal pregnancy outcome (controls) and 84 women with placental abruption or infarction (study group) were selected, and studied
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9e8a45c81ce385a8c96bd582f5fe3aa
http://hdl.handle.net/2066/24052
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8
Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient
Autor: L.P.W.J. van den Heuvel, F.J.F. Trijbels, Henk J. Blom, Godfried H.J. Boers, W.O. Renier, Jan P. Kraus, Leo A. J. Kluijtmans, Erik M. B. Stevens
Publikováno v: Journal of Clinical Investigation, 98, 285-289
Journal of Clinical Investigation, 98, 2, pp. 285-289
Journal of Clinical Investigation, 98, pp. 285-289
We determined the molecular basis of cystathionine beta-synthase (CBS) deficiency in a partially pyridoxine-responsive homocystinuria patient. Direct sequencing of the entire CBS cDNA revealed the presence of a homozygous G1330A transition. This muta
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b080d4257f9fdc4900760362e3d0233
http://hdl.handle.net/2066/23662
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9
Recurrent miscarriage and hyperhomocysteinemia
Autor: Wouters, M.G.A.J.
Contains fulltext : mmubn000001_21747554x.pdf (Publisher’s version ) (Open Access) Promotores : T. Eskes, H. Blom, G. Boers, C. Hamilton en C. Thomas 132 p.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::49c0a04f42b197217f7a4d5987ee03bc
https://hdl.handle.net/2066/146155
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10
Hyperhomocysteinaemia: a role in the accelerated atherogenesis of chronic renal failure?
Autor: M. J. F. M. Janssen, Godfried H.J. Boers, C.D.A. Stehouwer, M.P. van den Berg
Publikováno v: Netherlands Journal of Medicine, 46, pp. 244-251
Netherlands Journal of Medicine, 46, 244-251
Moderate hyperhomocysteinaemia has recently been established as an independent risk factor for atherothrombotic disease. It might be caused by heterozygosity for cystathionine β-synthase deficiency, an enzyme involved in the conversion of methionine
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fc910692c5eed494b22d22a4a688016
https://hdl.handle.net/2066/222109
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