Studies in Inherited Metabolic Disease
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Published By Springer Netherlands

9789401070591, 9789400912595
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The Paediatric Lipid Clinic in Birmingham

1988 ◽  
pp. 91-93
Author(s):  
M. Tarlow ◽  
A. Green ◽  
D. Worthington ◽  
E. Buchanan
Keyword(s):  
Lipid Clinic

Diversity in Residual Alanine Glyoxylate Aminotransferase Activity in Hyperoxaluria Type I: Correlation with Pyridoxine Responsiveness

1988 ◽  
pp. 208-211
Author(s):  
R. J. A. Wanders ◽  
C. W. T. van Roermund ◽  
S. Jurriaans ◽  
R. B. H. Schutgens ◽  
J. M. Tager ◽  
...  
Keyword(s):  
Type I ◽  
Aminotransferase Activity ◽  
Hyperoxaluria Type I ◽  
Glyoxylate Aminotransferase ◽  
Hyperoxaluria Type

Histochemical, Ultrastructural and Biochemical Study of Muscle Mitochondria in Leber’s Hereditary Optic Atrophy

1988 ◽  
pp. 193-197
Author(s):  
A. Federico ◽  
L. Manneschi ◽  
M. Meloni ◽  
C. Alessandrini ◽  
A. M. Bardelli ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Biochemical Study ◽  
Muscle Mitochondria ◽  
Hereditary Optic Atrophy

Cytochrome c Oxidase Deficiency in Three Patients with Leigh’s Disease

1988 ◽  
pp. 189-192
Author(s):  
M. Di Rocco ◽  
E. Veneselli ◽  
M. O. Ciccone ◽  
A. Taccone ◽  
M. Stroppiano ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Oxidase Deficiency ◽  
Leigh's Disease ◽  
Cytochrome C Oxidase Deficiency

Peroxisomes and Peroxisomal Functions in Hyperpipecolic Acidaemia

1988 ◽  
pp. 161-164
Author(s):  
R. J. A. Wanders ◽  
C. W. T. van Roermund ◽  
M. J. A. van Wijland ◽  
R. B. H. Schutgens ◽  
J. M. Tager ◽  
...  
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