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Inborn Errors of Metabolism in Humans: Monograph based upon Proceedings of the International Symposium held in Interlaken, Switzerland, September 2–5, 1980 |
Forrester Cockburn; Richard Gitzelmann
Springer Netherlands
Inborn Errors of Metabolism in Humans: Monograph based upon Proceedings of the International Symposium held in Interlaken, Switzerland, September 2–5, 1980
Homocystinuria: clinical and biochemical heterogeneity
Authors

N. A. J. Carson

ARI Id

1674219727224_3035566

Access

Not Available Free

Pages

53-67

DOI

10.1007/978-94-009-7325-1_4

Chapter URL

https://rd.springer.com/chapter/10.1007/978-94-009-7325-1_4

Table of Contents of Book
Showing 1 to 20 of 26 entries
Chapters/HeadingsAuthor(s)PagesInfo
Front Matter
i-xv
Front Matter
1-1
Molecular aspects of genetic heterogeneity
H. Harris
3-11
Inborn errors of purine metabolism
W. L. Nyhan
13-36
Vitamin-responsive inherited metabolic disorders: propionic acidaemia and methylmalonic acidaemia
L. E. Rosenberg
37-52
Homocystinuria: clinical and biochemical heterogeneity
N. A. J. Carson
53-67
Hereditary defects of steroid biosynthesis
A. Prader; M. Zachmann
69-86
Blood—brain barrier amino-acid transport: clinical implications
W. M. Pardridge
87-99
Front Matter
101-101
Recent studies on the maturation of lysosomal enzymes
E. F. Neufeld
103-110
Enzyme substitution by fibroblast transplantation
M. F. Dean; H. Muir; P. F. Benson; L. R. Button
111-129
Artificial cell-encapsulated enzymes and adsorbents in congenital metabolic disorders
T. M. S. Chang
131-138
Prospects for enzyme replacement therapy in heritable metabolic disorders
R. O. Brady; J. A. Barranger; P. G. Pentchev; F. S. Furbish; A. E. Gal
139-154
Front Matter
155-155
Inborn errors of metabolism affecting brain development — Introduction
N. Herschkowitz
157-160
Mutations in mice affecting brain development and their correlations with human diseases
N. Baumann; F. Lachapelle; J.-C. Turpin
161-171
Murine mutations affecting myelination: models to study myelin diseases in the human
J.-M. Matthieu
173-192
The effect of phenylalanine on myelin metabolism in adolescent rats
F. A. Hommes; A. G. Eller; E. H. Taylor
193-199
Abnormal oligodendrocyte differentiation in a mouse mutant with defect in myelination
L. Bologa-Sandru; H.-P. Siegrist; A. Z’graggen; U. Wiesmann; N. Herschkowitz
201-208
Front Matter
209-209
Chapters/HeadingsAuthor(s)PagesInfo
Showing 1 to 20 of 26 entries
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