Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation

2011 ◽  
Vol 21 (6) ◽  
pp. 641-645 ◽  
Author(s):  
Masahiro Tahara ◽  
Hidemasa Sakai ◽  
Ryuta Nishikomori ◽  
Takahiro Yasumi ◽  
Toshio Heike ◽  
...  
Keyword(s):  
Chronic Hepatitis ◽  
Gene Mutation ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Neonatal Onset ◽  
Mvk Gene

scholarly journals A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis

2017 ◽  
Vol 40 (2) ◽  
pp. 131-137
Author(s):  
Yuriko YAMASHITA ◽  
Shinsuke MATSUMOTO ◽  
Ryugo HIRAMOTO ◽  
Isao KOMORI ◽  
Takayuki TANAKA ◽  
...  
Keyword(s):  
Hydrops Fetalis ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Neonatal Onset

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

H63D HFE gene mutation is a positive predictive factor to response to antiviral therapy in chronic hepatitis C

2000 ◽  
Vol 32 ◽  
pp. 113 ◽  
Author(s):  
P. Lebray ◽  
H. Zylberberg ◽  
S. Hue ◽  
S. Martin ◽  
Y. Chrétien ◽  
...  
Keyword(s):  
Chronic Hepatitis ◽  
Hepatitis C ◽  
Antiviral Therapy ◽  
Gene Mutation ◽  
Chronic Hepatitis C ◽  
Predictive Factor ◽  
Hfe Gene ◽  
Hfe Gene Mutation

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 Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome

PLoS ONE ◽  
2020 ◽  
Vol 15 (8) ◽  
pp. e0237999
Author(s):  
Geeta Madathil Govindaraj ◽  
Abhinav Jain ◽  
Geetha Peethambaran ◽  
Rahul C. Bhoyar ◽  
Shamsudheen Karuthedath Vellarikkal ◽  
...  
Keyword(s):  
Clinical Features ◽  
Genetic Variants ◽  
Mevalonate Kinase ◽  
South Indian ◽  
Mvk Gene
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