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of 10
pro vyhledávání: '"P. E. Jira"'
Autor:
Petr E. Jira, Ron A. Wevers, Jan de Jong, Estela Rubio-Gozalbo, Fokje S.M. Janssen-Zijlstra, Arno F.J. van Heyst, Rob C.A. Sengers, Jan A.M. Smeitink
Publikováno v:
Journal of Lipid Research, Vol 41, Iss 8, Pp 1339-1346 (2000)
The Smith-Lemli-Opitz syndrome (SLOS) is caused by deficient Δ7-dehydrocholesterol reductase, which catalyzes the final step of the cholesterol biosynthetic pathway, resulting in low cholesterol and high concentrations of its direct precursors 7-deh
Externí odkaz:
https://doaj.org/article/e73b264a07374edab474c9549fa10d30
Publikováno v:
Tijdschrift voor Kindergeneeskunde. 72:258-261
Wij beschrijven een zuigeling na een lineaire schedelfractuur rechts parietaal. Aanvankelijk was er sprake van goed herstel na intensieve zorg bij bewustzijnsverlies, respiratoire insufficientie en focale neurologische afwijkingen. Enkele maanden lat
Autor:
P. E. JIRA, R. J. A. WANDERS, J. A. M. SMEITINK, J. JONG, R. A. WEVERS, W. OOSTHEIM, J. H. A. M. TUERLINGS, R. C. M. HENNEKAM, R. C. A. SENGERS, H. R. WATERHAM
Publikováno v:
Annals of human genetics, 65(Part 3), 229-236. Wiley-Blackwell
Annals of Human Genetics, 65, Pt 3, pp. 229--36
Annals of Human Genetics, 65, 229--36
Annals of Human Genetics, 65, Pt 3, pp. 229--36
Annals of Human Genetics, 65, 229--36
Item does not contain fulltext Smith--Lemli--Opitz syndrome (SLOS) is caused by mutations in the DHCR7 gene leading to deficient activity of 7-dehydrocholesterol reductase (DHCR7; EC 1.3.1.21), the final enzyme of the cholesterol biosynthetic pathway
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68cf521b99e5269ceac5d7dcec78aec4
https://doi.org/10.1046/j.1469-1809.2001.6530229.x
https://doi.org/10.1046/j.1469-1809.2001.6530229.x
Autor:
P E, Jira, R J, Wanders, J A, Smeitink, J, De Jong, R A, Wevers, W, Oostheim, J H, Tuerlings, R C, Hennekam, R C, Sengers, H R, Waterham
Publikováno v:
Annals of human genetics. 65(Pt 3)
Smith--Lemli--Opitz syndrome (SLOS) is caused by mutations in the DHCR7 gene leading to deficient activity of 7-dehydrocholesterol reductase (DHCR7; EC 1.3.1.21), the final enzyme of the cholesterol biosynthetic pathway, resulting in low cholesterol
Autor:
P E, Jira, R A, Wevers, J, de Jong, E, Rubio-Gozalbo, F S, Janssen-Zijlstra, A F, van Heyst, R C, Sengers, J A, Smeitink
Publikováno v:
Journal of lipid research. 41(8)
The Smith-Lemli-Opitz syndrome (SLOS) is caused by deficient Delta(7)-dehydrocholesterol reductase, which catalyzes the final step of the cholesterol biosynthetic pathway, resulting in low cholesterol and high concentrations of its direct precursors
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 142(24)
Three neonatal patients, one girl and two boys, presented with infantile Pompe's disease. A generalized hypotonia with decreased tendon reflexes and heart failure due to hypertrophic cardiomyopathy dominated the clinical picture in all three; these s
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 140(31)
Three infants aged 1, 3 and 9 months with severe theophylline intoxication are reported. Maximum serum theophylline concentrations were 65, 44 and 156 mg/l, respectively. Vomiting, agitation and tachycardia are the classical features. Seizures and ca
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 140(28)
In a male neonate dysmaturity, microcephalia, a high nasal bridge, a long philtrum, broad dental ridges, schisis of the palatum molle, retrognathia, a small penis with a chorda, a small scrotum, bilateral inguinal hernia and bilateral syndactyly of t
Autor:
P E, Jira, L A, Kollée
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 138(7)
Publikováno v:
European Journal of Clinical Microbiology & Infectious Diseases. 12:720-721