scholarly journals Mevalonic aciduria

2020 ◽  
Author(s):  
Keyword(s):  
Mevalonic Aciduria

Abnormal prenatal ultrasound findings in mevalonic aciduria

2008 ◽  
Vol 28 (3) ◽  
pp. 257-258 ◽  
Author(s):  
V. Schwarzer ◽  
D. Haas ◽  
G. F. Hoffmann ◽  
H. Meyberg ◽  
U. Gembruch
Keyword(s):  
Prenatal Ultrasound ◽  
Ultrasound Findings ◽  
Mevalonic Aciduria

Mevalonic aciduria and hyper-IgD syndrome: Two sides of the same coin?

2001 ◽  
Vol 24 (3) ◽  
pp. 413-414 ◽  
Author(s):  
M. Tsimaratos ◽  
I. Kone-Paut ◽  
P. Divry ◽  
N. Philip ◽  
B. Chabrol
Keyword(s):  
Mevalonic Aciduria ◽  
Hyper Igd Syndrome ◽  
Two Sides

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

scholarly journals AB1063 INTERSTITIAL LUNG DISEASE IN A NEWBORN AFFECTED BY MEVALONIC ACIDURIA

2019 ◽  
Author(s):  
Sofia Torreggiani ◽  
Carlo Pietrasanta ◽  
Francesca Minoia ◽  
Giovanni Filocamo ◽  
Andrea Ronchi ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
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

Allogeneic Bone Marrow Transplantation in Mevalonic Aciduria

2007 ◽  
Vol 356 (26) ◽  
pp. 2700-2703 ◽  
Author(s):  
Bénédicte Neven ◽  
Vassili Valayannopoulos ◽  
Pierre Quartier ◽  
Stéphane Blanche ◽  
Anne-Marie Prieur ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Allogeneic Bone Marrow Transplantation ◽  
Allogeneic Bone Marrow ◽  
Allogeneic Bone ◽  
Mevalonic Aciduria

scholarly journals Mevalonic Aciduria in a Child Featuring Hepatic Fibrosis and Novel Mevalonate Kinase Mutations

2009 ◽  
Vol 3 (1) ◽  
pp. 45-47
Author(s):  
M. Harel-Meir ◽  
Y. Bujanover ◽  
Y. Berkun ◽  
Y. Anikster ◽  
Y. Anikster
Keyword(s):  
Hepatic Fibrosis ◽  
Mevalonate Kinase ◽  
Mevalonic Aciduria
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