Retinitis pigmentosa in mevalonate kinase deficiency

2005 ◽  
Vol 28 (6) ◽  
pp. 1143-1145 ◽  
Author(s):  
B. Balgobind ◽  
D. Wittebol-Post ◽  
J. Frenkel
Keyword(s):  
Retinitis Pigmentosa ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase

Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations

2017 ◽  
Vol 38 (4) ◽  
pp. 340-344 ◽  
Author(s):  
Ulrich Kellner ◽  
Heidi Stöhr ◽  
Silke Weinitz ◽  
Ghazaleh Farmand ◽  
Bernhard H. F. Weber
Keyword(s):  
Retinitis Pigmentosa ◽  
Gene Mutations ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Mvk Gene

Mevalonate Kinase Deficiency: Diagnostic and Management Challenges

2021 ◽  
Author(s):  
Puneet Kumar Choudhary ◽  
Vivek Parihar ◽  
Jagatshreya Satapathy ◽  
Narendra Kumar Bagri
Keyword(s):  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase

Mutational spectrum and genotype–phenotype correlations in mevalonate kinase deficiency

2006 ◽  
Vol 27 (8) ◽  
pp. 796-802 ◽  
Author(s):  
Saskia H.L. Mandey ◽  
Marit S. Schneiders ◽  
Janet Koster ◽  
Hans R. Waterham
Keyword(s):  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Mutational Spectrum

Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria

1997 ◽  
Vol 20 (3) ◽  
pp. 391-394 ◽  
Author(s):  
K. M. Gibson ◽  
G. F. Hoffmann ◽  
L. Sweetman ◽  
B. Buckingham
Keyword(s):  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Dizygotic Twin ◽  
Mevalonic Aciduria

Mevalonate Kinase Deficiency: Disclosing the Role of Mevalonate Pathway Modulation in Inflammation

2012 ◽  
Vol 18 (35) ◽  
pp. 5746-5752 ◽  
Author(s):  
Annalisa Marcuzzi ◽  
Sergio Crovella ◽  
Lorenzo Monasta ◽  
Liza Vecchi Brumatti ◽  
Marco Gattorno ◽  
...  
Keyword(s):  
Mevalonate Pathway ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase

scholarly journals A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Tiziana Coppola ◽  
Bradford Becken ◽  
Heather Van Mater ◽  
Marie Theresa McDonald ◽  
Gabriela Maradiaga Panayotti
Keyword(s):  
Case Report ◽  
Lower Extremity ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Lower Extremity Weakness

scholarly journals Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases

2016 ◽  
Vol 94 (10) ◽  
pp. 994-999 ◽  
Author(s):  
Julie Jurczyluk ◽  
Marcia A Munoz ◽  
Oliver P Skinner ◽  
Ryan C Chai ◽  
Naveid Ali ◽  
...  
Keyword(s):  
Mevalonate Kinase Deficiency ◽  
Rab Gtpases ◽  
Mevalonate Kinase

scholarly journals Mevalonate kinase deficiency: current perspectives

2016 ◽  
Vol Volume 9 ◽  
pp. 101-110 ◽  
Author(s):  
Grant Schulert ◽  
Leslie Favier
Keyword(s):  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase
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