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 in a child with cerebellar ataxia, hypotonia and mevalonic aciduria

1988 ◽  
Vol 148 (3) ◽  
pp. 250-252 ◽  
Author(s):  
K. M. Gibson ◽  
G. Hoffmann ◽  
W. L. Nyhan ◽  
L. Sweetman ◽  
R. Berger ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Mevalonic Aciduria

Mevalonic aciduria: Family studies in mevalonate kinase deficiency, an inborn error of cholesterol biosynthesis

1987 ◽  
Vol 10 (S2) ◽  
pp. 282-285 ◽  
Author(s):  
K. M. Gibson ◽  
G. Hoffmann ◽  
W. L. Nyhan ◽  
L. Sweetman ◽  
I. K. Brandt ◽  
...  
Keyword(s):  
Inborn Error ◽  
Cholesterol Biosynthesis ◽  
Family Studies ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Mevalonic Aciduria

Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency

1993 ◽  
Vol 217 (2) ◽  
pp. 217-220 ◽  
Author(s):  
K.Michael Gibson ◽  
Frans Stellaard ◽  
Georg F. Hoffmann ◽  
Dietz Rating ◽  
Martin Hrebicek ◽  
...  
Keyword(s):  
Bile Acid ◽  
Acid Metabolism ◽  
Bile Acid Metabolism ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Mevalonic Aciduria

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
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