Zobrazeno 1 - 10
of 12
pro vyhledávání: '"enzymatic defects"'
Publikováno v:
Vestnik Transplantologii i Iskusstvennyh Organov, Vol 15, Iss 1, Pp 67-74 (2013)
Glycogen storage diseases I, III and IV types are congenital disorders, which are commonly associated with severe liver diseases. Liver transplantation has been proposed as a treatment of choise for these disorders. While liver transplantation correc
Externí odkaz:
https://doaj.org/article/5c4cb80776e74b918006d3fbae13e33e
Autor:
Lambert P. van den Heuvel, Nathalie M.J. van der Put, Henk J. Blom, Fons J. M. Gabreëls, Jan A.M. Smeitink, Erik M. B. Stevens, Frans J.M. Trijbels, Tom K.A.B. Eskes
Publikováno v:
American Journal of Human Genetics, 62, 1044-1051
American Journal of Human Genetics, 62, pp. 1044-1051
American Journal of Human Genetics, 62, pp. 1044-1051
SummaryRecently, we showed that homozygosity for the common 677(C→T) mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, causing thermolability of the enzyme, is a risk factor for neural-tube defects (NTDs). We now report on another m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bfb75b87a70342401eb479d87f52139
https://doi.org/10.1086/301825
https://doi.org/10.1086/301825
Publikováno v:
Vestnik Transplantologii i Iskusstvennyh Organov, Vol 15, Iss 1, Pp 67-74 (2013)
Glycogen storage diseases I, III and IV types are congenital disorders, which are commonly associated with severe liver diseases. Liver transplantation has been proposed as a treatment of choise for these disorders. While liver transplantation correc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d02f6759490f544f7fa525b4b83414d8
https://doi.org/10.15825/1995-1191-2013-1-67-74
https://doi.org/10.15825/1995-1191-2013-1-67-74
Autor:
Put, N.M.J. van der, Thomas, C.M.G., Eskes, T.K.A.B., Trijbels, F.J.M., Steegers-Theunissen, R.P.M., Mariman, E.C.M., Graaf-Hess, A.C. de, Smeitink, J.A.M., Blom, H.J.
Publikováno v:
Quarterly Journal of Medicine, 90, 505-510
Quarterly Journal of Medicine, 90, pp. 505-510
Quarterly Journal of Medicine, 90, pp. 505-510
Contains fulltext : 24601___.PDF (Publisher’s version ) (Open Access)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b04410f94d85ec92e5e68ce61dbd62a6
http://hdl.handle.net/2066/166823
http://hdl.handle.net/2066/166823
Publikováno v:
Quarterly Journal of Medicine, 90, 111-115
Quarterly Journal of Medicine, 90, pp. 111-115
Quarterly Journal of Medicine, 90, pp. 111-115
Item does not contain fulltext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b589be827276e83393d3ef22307adb46
http://hdl.handle.net/2066/222748
http://hdl.handle.net/2066/222748
Autor:
Franssen-Franken, D.G., Blom, H.J., Boers, G.H.J., Tangerman, A., Thomas, C.M.G., Trijbels, J.M.F.
Publikováno v:
Biochimica et Biophysica Acta, 1317, 101-104
Biochimica et Biophysica Acta, 1317, pp. 101-104
Biochimica et Biophysica Acta, 1317, pp. 101-104
Item does not contain fulltext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ae57eddfe37308836555bed03c378b05
http://hdl.handle.net/2066/223241
http://hdl.handle.net/2066/223241
Autor:
J Gordon Millichap
Publikováno v:
Pediatric Neurology Briefs, Vol 2, Iss 11, Pp 84-85 (1988)
The biochemical and clinical diagnostic characteristics of peroxisomal disorders are reviewed by authors from the Department of Pediatrics, Medical University of South Carolina, Charleston, SC.
Externí odkaz:
https://doaj.org/article/bfc6c2b3b38f4f2e87080f38c0d9d7f9
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
J Gordon Millichap
Publikováno v:
Pediatric Neurology Briefs, Vol 4, Iss 9, Pp 70-70 (1990)
Pediatric Neurology Briefs, Vol 2, Iss 11, Pp 84-85 (1988)
Pediatric Neurology Briefs, Vol 2, Iss 4, Pp 30-30 (1988)
Pediatric Neurology Briefs, Vol 2, Iss 11, Pp 84-85 (1988)
Pediatric Neurology Briefs, Vol 2, Iss 4, Pp 30-30 (1988)
The total fatty acid and aldehyde composition in the brain, liver, and kidneys of two infants with Zellweger’s syndrome and one with pseudo-Zellweger’s syndrome and the fatty acid patterns expressed as percent values are reported from the Autonom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5c400bf76fb33732d24fb56e6e348ce
https://www.pediatricneurologybriefs.com/articles/3299
https://www.pediatricneurologybriefs.com/articles/3299
Kniha
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.