Mutations in the Mevalonate Kinase ( MVK ) Gene Cause Nonsyndromic Retinitis Pigmentosa

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

Ophthalmic Genetics ◽

10.1080/13816810.2016.1227459 ◽

2017 ◽

Vol 38 (4) ◽

pp. 340-344 ◽

Cited By ~ 3

Author(s):

Ulrich Kellner ◽

Heidi Stöhr ◽

Silke Weinitz ◽

Ghazaleh Farmand ◽

Bernhard H. F. Weber

Keyword(s):

Retinitis Pigmentosa ◽

Gene Mutations ◽

Mevalonate Kinase ◽

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

PLoS ONE ◽

10.1371/journal.pone.0237999 ◽

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 ◽

Retinitis pigmentosa in mevalonate kinase deficiency

Journal of Inherited Metabolic Disease ◽

10.1007/s10545-005-0178-7 ◽

2005 ◽

Vol 28 (6) ◽

pp. 1143-1145 ◽

Cited By ~ 16

Author(s):

B. Balgobind ◽

D. Wittebol-Post ◽

J. Frenkel

Keyword(s):

Retinitis Pigmentosa ◽

Mevalonate Kinase

Erratum: Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

European Journal of Human Genetics ◽

10.1038/sj.ejhg.5200691 ◽

2001 ◽

Vol 9 (8) ◽

pp. 651-651 ◽

Cited By ~ 1

Author(s):

SanderM Houten ◽

Janet Koster ◽

Gerrit-Jan Romeijn ◽

Joost Frenkel ◽

Maja Di Rocco ◽

...

Keyword(s):

Periodic Fever ◽

Mevalonate Kinase ◽

Periodic Fever Syndrome ◽

Novel Mutations ◽

Mevalonic Aciduria ◽

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

European Journal of Human Genetics ◽

10.1038/sj.ejhg.5200595 ◽

2001 ◽

Vol 9 (4) ◽

pp. 253-259 ◽

Cited By ~ 65

Author(s):

Sander M Houten ◽

Janet Koster ◽

Gerrit-Jan Romeijn ◽

Joost Frenkel ◽

Maja Di Rocco ◽

...

Keyword(s):

Periodic Fever ◽

Mevalonate Kinase ◽

Periodic Fever Syndrome ◽

Novel Mutations ◽

Mevalonic Aciduria ◽

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

Modern Rheumatology ◽

10.3109/s10165-011-0442-7 ◽

2011 ◽

Vol 21 (6) ◽

pp. 641-645 ◽

Cited By ~ 8

Author(s):

Masahiro Tahara ◽

Hidemasa Sakai ◽

Ryuta Nishikomori ◽

Takahiro Yasumi ◽

Toshio Heike ◽

...

Keyword(s):

Chronic Hepatitis ◽

Gene Mutation ◽

Mevalonate Kinase ◽

Neonatal Onset ◽

Doppler -- Sonography of the A.ciliares breves in Patients with Low Tension Glaucoma and with Retinitis Pigmentosa

European Journal of Ultrasound ◽

10.1016/s0929-8266(97)87283-7 ◽

1997 ◽

Vol 6 ◽

pp. S42-S43

Author(s):

V Klingmueller

Keyword(s):

Retinitis Pigmentosa ◽

Doppler Sonography ◽

Low Tension Glaucoma ◽

Low Tension

A Dermatoglyphics Study of Retinitis Pigmentosa– A Case Study

PARIPEX-INDIAN JOURNAL OF RESEARCH ◽

10.15373/22501991/may2014/2 ◽

2012 ◽

Vol 3 (5) ◽

pp. 5-6

Author(s):

Dr. Chandan Kumar Sinha ◽

◽

Amminabhavi Nazia Banu Nurahmad ◽

Yogita Mallu Kattimani

Keyword(s):

Retinitis Pigmentosa

ANNUAL PNEUMOCOCCAL VACCINE (PVC-13) REDUCES PERIODIC FEVER EPISODES ASSOCIATED WITH MEVALONATE KINASE DEFICIENCY

10.26226/morressier.57bc1755d462b80290b4d8da ◽

2016 ◽

Author(s):

Daifulah Al-zahrani

Keyword(s):

Pneumococcal Vaccine ◽

Periodic Fever ◽

Mevalonate Kinase

http://www.fortunejournals.com/journal-of-ophthalmology-and-research-home-fjor.php ◽

Amplitude and Latency of Electroretinographical Peaks as a tool to Predict the Extent of Retinal Degeneration in Retinitis Pigmentosa Patients

10.26502/fjor.2644-00240024 ◽

2020 ◽

Vol 03 (03) ◽

Author(s):

Maryam Naser ◽

Seyed Mohammad Masoud Shushtarian

Keyword(s):

Retinitis Pigmentosa ◽

Retinal Degeneration