Alpha 2.0
Login Register
» Authors » G J Romeijn

G J Romeijn

Explore the profile of G J Romeijn including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 11
Citations 325
Followers 0
Related Specialties
Genetics
Biochemistry
Molecular Biology
Top 10 Co-Authors
R J Wanders
H R Waterham
S M Houten
M Duran
J Koster
J Frenkel
W Kuis
R C Hennekam
B T Poll-The
L Dorland
Published In
J Inherit Metab Dis
Hum Mol Genet
Am J Hum Genet
Biochem Biophys Res Commun
J Med Genet
Affiliations
Soon will be listed here.
Recent Articles
1.
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis
Waterham H, Koster J, Romeijn G, Hennekam R, Vreken P, Andersson H, et al.
Am J Hum Genet . 2001 Aug; 69(4):685-94. PMID: 11519011
Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies. Patients with desmosterolosis have elevated levels of the cholesterol precursor desmosterol, in plasma, tissue, and cultured cells; this...
2.
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome
Houten S, Koster J, Romeijn G, Frenkel J, Di Rocco M, Caruso U, et al.
Eur J Hum Genet . 2001 Apr; 9(4):253-9. PMID: 11313768
Mevalonic aciduria (MA) and hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) are two autosomal recessive inherited disorders both caused by a deficient activity of the enzyme mevalonate kinase (MK) resulting...
3.
Incidence and molecular mechanism of aberrant splicing owing to a G-->C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome
Waterham H, Oostheim W, Romeijn G, Wanders R, Hennekam R
J Med Genet . 2000 Jul; 37(5):387-9. PMID: 10905895
No abstract available.
4.
Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome
Poll-The B, Frenkel J, Houten S, Kuis W, Duran M, de Koning T, et al.
J Inherit Metab Dis . 2000 Jul; 23(4):363-6. PMID: 10896295
No abstract available.
5.
Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis
Houten S, Romeijn G, Koster J, Gray R, Darbyshire P, Smit G, et al.
Hum Mol Genet . 1999 Jul; 8(8):1523-8. PMID: 10401001
Mevalonic aciduria is a rare autosomal recessive metabolic disorder, characterized by psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. The disorder is caused by a deficient activity...
6.
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
Houten S, Kuis W, Duran M, de Koning T, van Royen-Kerkhof A, Romeijn G, et al.
Nat Genet . 1999 Jun; 22(2):175-7. PMID: 10369261
Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is an autosomal recessive disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Diagnostic...
7.
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata
Wanders R, Romeijn G
J Inherit Metab Dis . 1998 Aug; 21(3):309-12. PMID: 9686383
No abstract available.
8.
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
Wanders R, Romeijn G
Biochem Biophys Res Commun . 1998 Jul; 247(3):663-7. PMID: 9647750
Peroxisomes catalyze a number of essential metabolic functions especially related to lipid metabolism. There is increasing evidence suggesting that peroxisomes are also involved in the synthesis of isoprenoids via the...
9.
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
Wanders R, Romeijn G, Wijburg F, Hennekam R, de Jong J, Wevers R, et al.
J Inherit Metab Dis . 1997 Jul; 20(3):432-6. PMID: 9266374
No abstract available.
10.
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
Wanders R, Romeijn G
J Inherit Metab Dis . 1996 Jan; 19(2):193-6. PMID: 8739963
No abstract available.