Classical galactosemia revisited

Thesis

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Titlepage

Contents

Abbreviations

1 Introduction

2 The mutational spectrum of classical galactosemia in The Netherlands

3 Living with Classical Galactosemia, health related quality of life consequences

4 High tolerance for oral galactose in classical galactosemia: dietary implications

5 Exogenous galactose does not influence endogenous galactose synthesis in patients with classical galactosemia: Implications for dietary treatment

6 Classical galactosemia versus galactokinase deficiency, a comparative study with implications for a potential therapy

7 A survey of guidelines for the treatment and follow-up of classical galactosemia

8 Summary, general discussion and future plans; a proposal for guidelines for the treatment and follow-up of classical galactosemia

9 Samenvatting

Dankwoord

Curriculum Vitae

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