Studies in Inherited Metabolic Disease
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Published By Springer Netherlands

9789401069700, 9789400910690
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Nuclear Magnetic Resonance Brain Study in a Case of Wilson Disease

1989 ◽  
pp. 386-388
Author(s):  
R. Longhi ◽  
E. Riva ◽  
A. Rottoli ◽  
R. Valsasina ◽  
P. Pinelli ◽  
...  
Keyword(s):  
Nuclear Magnetic Resonance ◽  
Magnetic Resonance ◽  
Wilson Disease ◽  
Brain Study ◽  
Nuclear Magnetic

Peroxisomal Enzyme Deficiency in X-linked Dominant Conradi—Hünermann Syndrome

1989 ◽  
pp. 358-360 ◽  
Author(s):  
P. T. Clayton ◽  
D. Chester Kalter ◽  
D. J. Atherton ◽  
G. T. N. Besley ◽  
D. M. Broadhead
Keyword(s):  
Enzyme Deficiency ◽  
Peroxisomal Enzyme

Familial Mitochondrial Complex I Deficiency with an Abnormal Mitochondrial Encoded Protein

1989 ◽  
pp. 355-357
Author(s):  
P. G. Barth ◽  
P. A. Bolhuis ◽  
P. A. Wijburg ◽  
K. M. C. Sinjorgo ◽  
W. Ruitenbeek ◽  
...  
Keyword(s):  
Complex I ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Complex I Deficiency

Prenatal Diagnosis of Atypical Phenylketonuria

1989 ◽  
pp. 295-298 ◽  
Author(s):  
N. Blau ◽  
A. Niederwieser ◽  
H. Ch. Curtius ◽  
L. Kierat ◽  
W. Leimbacher ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Atypical Phenylketonuria

First Trimester Prenatal Diagnosis of 3-Hydroxy-3-Methylglutaric Aciduria

1989 ◽  
pp. 283-285 ◽  
Author(s):  
R. A. Chalmers ◽  
J. Mistry ◽  
R. Penketh ◽  
I. R. McFadyen
Keyword(s):  
Prenatal Diagnosis ◽  
First Trimester

Prenatal Diagnosis and Prevention of Inherited Abnormalities of Collagen

1989 ◽  
pp. 135-173
Author(s):  
F. M. Pope ◽  
S. C. M. Daw ◽  
P. Narcisi ◽  
A. R. Richards ◽  
A. C. Nicholls
Keyword(s):  
Prenatal Diagnosis
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