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1.
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
Nat Genet
; 22(2): 175-7, 1999 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-10369261
2.
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
Eur J Hum Genet
; 9(4): 253-9, 2001 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-11313768
3.
Incidence and molecular mechanism of aberrant splicing owing to a G-->C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome.
J Med Genet
; 37(5): 387-9, 2000 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-10905895
4.
Differential deficiency of mevalonate kinase and phosphomevalonate kinase in patients with distinct defects in peroxisome biogenesis: evidence for a major role of peroxisomes in cholesterol biosynthesis.
Biochem Biophys Res Commun
; 247(3): 663-7, 1998 Jun 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-9647750
5.
Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells.
J Inherit Metab Dis
; 18 Suppl 1: 90-100, 1995.
Artículo
en Inglés
| MEDLINE | ID: mdl-9053559
6.
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
Am J Hum Genet
; 69(4): 685-94, 2001 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-11519011
7.
Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.
Hum Mol Genet
; 8(8): 1523-8, 1999 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-10401001
8.
Cholesterol biosynthesis in Zellweger syndrome: normal activity of mevalonate kinase, mevalonate-5'-pyrophosphate decarboxylase and IPP-isomerase in patients' fibroblasts but deficient mevalonate kinase activity in liver.
J Inherit Metab Dis
; 19(2): 193-6, 1996.
Artículo
en Inglés
| MEDLINE | ID: mdl-8739963
9.
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata.
J Inherit Metab Dis
; 21(3): 309-12, 1998 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-9686383
10.
Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection.
J Inherit Metab Dis
; 20(3): 432-6, 1997 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-9266374
11.
Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome.
J Inherit Metab Dis
; 23(4): 363-6, 2000 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-10896295
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