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46 results

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Page 1
Cholesterol metabolism deficiency.
Jira P. Jira P. Handb Clin Neurol. 2013;113:1845-50. doi: 10.1016/B978-0-444-59565-2.00054-X. Handb Clin Neurol. 2013. PMID: 23622407 Review.
Two result from an enzyme defect in the pre-squalene segment of the pathway: the classical form of mevalonic aciduria and the hyperimmunoglobulinemia D syndrome, also known as Dutch-type periodic fever. ...
Two result from an enzyme defect in the pre-squalene segment of the pathway: the classical form of mevalonic aciduria and the …
Natural history of mevalonate kinase deficiency: a literature review.
Zhang S. Zhang S. Pediatr Rheumatol Online J. 2016 May 4;14(1):30. doi: 10.1186/s12969-016-0091-7. Pediatr Rheumatol Online J. 2016. PMID: 27142780 Free PMC article. Review.
Mevalonate kinase deficiency (MKD), a very rare autosomal recessive autoinflammatory disease with multiple organ involvement, presents clinically as hyperimmunoglobulinemia D syndrome (HIDS), a less severe phenotype and more common form, and mevalonic aciduria (MVA) …
Mevalonate kinase deficiency (MKD), a very rare autosomal recessive autoinflammatory disease with multiple organ involvement, presents clini …
Neurological manifestations in mevalonate kinase deficiency: A systematic review.
Elhani I, Hentgen V, Grateau G, Georgin-Lavialle S. Elhani I, et al. Mol Genet Metab. 2022 Jun;136(2):85-93. doi: 10.1016/j.ymgme.2022.04.006. Epub 2022 Apr 30. Mol Genet Metab. 2022. PMID: 35525811 Review.
INTRODUCTION: Mevalonate kinase deficiency (MKD) is a monogenic auto-inflammatory disease. Its manifestations range from partial MKD to mevalonic aciduria (MVA). All patients display a periodic fever, and MVA patients additionally exhibit severe neurological involve …
INTRODUCTION: Mevalonate kinase deficiency (MKD) is a monogenic auto-inflammatory disease. Its manifestations range from partial MKD to m …
Neurological manifestations of organic acid disorders.
Hoffmann GF, Gibson KM, Trefz FK, Nyhan WL, Bremer HJ, Rating D. Hoffmann GF, et al. Eur J Pediatr. 1994;153(7 Suppl 1):S94-100. doi: 10.1007/BF02138786. Eur J Pediatr. 1994. PMID: 7957396 Review.
These include glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I), succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria), mevalonic aciduria, N-acetylaspartic aciduria (Canavan disease) and L-2-hydroxyglutaric aciduria. ...
These include glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I), succinic semialdehyde dehydrogenase deficiency (4-hydroxybut …
Inherited disorders of cholesterol biosynthesis.
Haas D, Kelley RI, Hoffmann GF. Haas D, et al. Neuropediatrics. 2001 Jun;32(3):113-22. doi: 10.1055/s-2001-16618. Neuropediatrics. 2001. PMID: 11521206 Review.
Defects of cholesterol biosynthesis comprise a heterogeneous group of disorders, most of which have only been recently described and more are likely to follow in the near future. Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) are due to allel …
Defects of cholesterol biosynthesis comprise a heterogeneous group of disorders, most of which have only been recently described and more ar …
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome.
Haas D, Hoffmann GF. Haas D, et al. Orphanet J Rare Dis. 2006 Apr 26;1:13. doi: 10.1186/1750-1172-1-13. Orphanet J Rare Dis. 2006. PMID: 16722536 Free PMC article. Review.
Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK), the first committed enzyme of cholesterol biosynthesis. ...
Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the two ends of a clinical spectrum of diseas …
Current advances in the understanding and treatment of mevalonate kinase deficiency.
Esposito S, Ascolese B, Senatore L, Bosis S, Verrecchia E, Cantarini L, Rigante D. Esposito S, et al. Int J Immunopathol Pharmacol. 2014 Oct-Dec;27(4):491-8. doi: 10.1177/039463201402700404. Int J Immunopathol Pharmacol. 2014. PMID: 25572728 Free article. Review.
Complete impairment results in the severe metabolic disease, mevalonic aciduria, while a partial deficiency results in a broad spectrum of clinical presentation, including HIDS. ...
Complete impairment results in the severe metabolic disease, mevalonic aciduria, while a partial deficiency results in a broad …
Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection.
Hoffmann GF, Sweetman L, Bremer HJ, Hunneman DH, Hyánek J, Kozich V, Lehnert W, Nyhan WL, Speidel I, Trefz FK, et al. Hoffmann GF, et al. Clin Chim Acta. 1991 May 15;198(3):209-27. doi: 10.1016/0009-8981(91)90355-g. Clin Chim Acta. 1991. PMID: 1653652
A stable isotope dilution assay using D3-mevalonic acid was developed and applied to the study of mevalonic aciduria. The method also appears to be suitable for the evaluation of different therapeutic regimens in patients with hypercholesterolemia. ...The analysis o …
A stable isotope dilution assay using D3-mevalonic acid was developed and applied to the study of mevalonic aciduria. The meth …
Molecular and cellular consequences of mevalonate kinase deficiency.
Politiek FA, Turkenburg M, Henneman L, Ofman R, Waterham HR. Politiek FA, et al. Biochim Biophys Acta Mol Basis Dis. 2024 Jun;1870(5):167177. doi: 10.1016/j.bbadis.2024.167177. Epub 2024 Apr 16. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 38636615 Free article.
To identify molecular and cellular consequences of MKD, we studied primary fibroblasts from severely affected patients with mevalonic aciduria (MKD-MA) and more mildly affected patients with hyper IgD and periodic fever syndrome (MKD-HIDS). ...
To identify molecular and cellular consequences of MKD, we studied primary fibroblasts from severely affected patients with mevalonic …
46 results