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Titlebook: Inherited Disorders of Vitamins and Cofactors; Proceedings of the 2 G. M. Addison,K. Bartlett,R. J. Pollitt Conference proceedings 1985 SSI

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Recent Advances in the Mechanism of Pyridoxine-responsive Disordersnown to respond . to pharmacologic doses of pyridoxine are listed. The mechanism of pyridoxine responsiveness in homocystinuria due to cystathionine β-synthase deficiency is discussed. There is a correlation in most (but not all) cases between the presence of residual CS activity, which is often sti
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Vitamin E and Muscle Diseasesular dystrophy and other severe myopathies have been performed. These have suggested three types of agent which might be useful for this purpose, namely calcium antagonists, phospholipase inhibitors, and antioxidants or scavengers of reactive-free radicals. Vitamin E falls into the latter of these t
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Biopterin, Neopterin and Tyrosine Responses to Combined Oral Phenylalanine and Tetrahydrobiopterin Lrosine. The enzyme system involves two enzymes, phenylalanine hydroxylase (EC 1.14.16.1) and dihydropteri-dine reductase (EC 1.6.99.7), and a reduced cofactor .L-.-5,6,7,8-tetrahydrobiopterin (Curtius ., 1979; Kaufman, 1983).
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Normal Vitamin Requirements in Neonates and Infantsamins in the UK. In the near future, studies with stable isotope-labelled vitamins should help to define pool sizes and turnover rates that are associated with particular intakes and thus give firmer evidence about requirements.
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