Molecular, biochemical end clinical aspects of peroxisomes biogenesis disorders - Contents

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Molecular, biochemical end clinical aspects of peroxisomes biogenesis

disorders

Gootjes, J.

Publication date

2004

Link to publication

Citation for published version (APA):

Gootjes, J. (2004). Molecular, biochemical end clinical aspects of peroxisomes biogenesis

disorders.

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Contents s

Chapterr 1

Chapterr 2

Chapterr 3

Chapterr 4

Chapterr 5

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--Chapterr 6

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f.-ChaptejSfE E

Chapterr 8

Summary y

Samenvatting g

Dankwoord d

CV V

Generall introduction

Biochemicall markers predicting survival in peroxisome biogenesiss disorders

Novell mutations in the PEX2 gene of four unrelated patientss with a peroxisome biogenesis disorder

Novell mutations in the PEX12 gene of patients with a peroxisomee biogenesis disorder

Identificationn of the molecular defect in patients with peroxisomall mosaicism using a novel method involvingg culturing of cells at 40°C: implications for otherr inborn errors of metabolism

Reinvestigationn of trihydroxycholestanoic acidemia: a peroxisomee biogenesis disorder as true defect

Rapidd diagnosis of peroxisomal biogenesis disorders byy means of immunofluorescence microscopy in lymphocytes s

Mutationall spectrum of peroxisome biogenesis disorders s