- ►annals.org [PDF] A Simon, L Cuisset, MF Vincent, SD van der … - Annals of internal medicine, 2001 - Am Coll Physicians Molecular Analysis of the Mevalonate Kinase Gene in a Cohort of ... Patients
with the Hyper-IgD and Periodic Fever Syndrome: Its ... Anna Simon, MD;
Laurence Cuisset, PhD; M.-Françoise Vincent, PhD; Saskia D. van der Velde- ... Cited by 42 - Related articles - All 7 versions
L Cuisset, JP Drenth, A Simon, MF Vincent, … - European journal of human genetics: EJHG, 2001 - ncbi.nlm.nih.gov Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) is an autosomal
recessive inflammatory disorder characterised by recurrent episode of fever
associated with lymphadenopathy, abdominal distress, joint involvement and ... Cited by 67 - Related articles - BL Direct - All 2 versions
- ►oxfordjournals.org J Frenkel, SM Houten, HR Waterham, RJA … - Rheumatology, 2001 - Br Soc Rheumatology Results. Fifteen patients with recurrent fever and raised serum immunoglobulin
(Ig) D were included. Their clinical features varied. Eleven patients had a
deficiency of MK, caused by mutations in the MVK gene. One mutation (V377I) ... Cited by 38 - Related articles - BL Direct - All 6 versions
- ►hids.net [PDF] A Simon, EC Mariman, JWM van der Meer, … - The American journal of medicine, 2003 - Elsevier Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; Mendelian
Inheritance in Man [MIM] 260920) is an autosomal, recessively inherited disorder
characterized by recurrent episodes of fever, abdominal distress, ... Cited by 18 - Related articles - All 11 versions
M Di Rocco, U Caruso, HR Waterham, P Picco … - Journal of inherited metabolic disease, 2001 - Springer Mevalonate kinase (MK) is the ¢rst enzyme after 3-hydroxy-3-methylglutaryl-CoA
reductase in the biosynthesis of cholesterol and nonsterol isoprenes. In 1986,
Hoffmann reported a patient with mevalonic aciduria due to mevalonate ... Cited by 18 - Related articles - BL Direct - All 5 versions
SH Mandey, MS Schneiders, J Koster, HR … - Human mutation, 2006 - dare.uva.nl Page 1. Mutational spectrum and genotype- phenotype correlations in mevalonate
kinase deficiency Saskia HL Mandey*, Marit S. Schneiders ... Cited by 21 - Related articles - View as HTML - BL Direct - All 5 versions
A D'Osualdo, P Picco, F Caroli, M Gattorno, R … - European Journal of Human Genetics, 2004 - nature.com Autosomal recessive autoinflammatory disorder caused by mutations of the
mevalonate kinase gene (MVK), leading to mild, incomplete MK enzyme deficiency
(MKD), has been known so far as Hyper-IgD and periodic fever syndrome ... Cited by 23 - Related articles - All 5 versions
JPH Drenth, L Cuisset, G Grateau, C Vasseur … - Nature genetics, 1999 - nature.com 1 Laboratoire de Génétique Moléculaire Humaine, Institut Cochin de
Génétique Moléculaire (ICGM) and Hôpital Cochin, Assistance
Publique-Hopitaux de Paris (AP-HP), Paris, France. Cited by 199 - Related articles - All 4 versions
SM Houten, CS van Woerden, FA Wijburg, … - European Journal of Human Genetics, 2003 - nature.com Hyper-IgD and periodic fever syndrome (HIDS) and mevalonic aciduria (MA) are two
autosomal recessive disorders that both are caused by a deficient activity of
the enzyme mevalonate kinase (MK) due to mutations in the encoding gene ... Cited by 23 - Related articles - All 2 versions
SM Houten, J Koster, GJ Romeijn, J Frenkel, M … - European journal of human genetics: EJHG, 2001 - ncbi.nlm.nih.gov 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 from ... Cited by 35 - Related articles - BL Direct
