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Acta Paediatrica, Volume 95 Supplement 451 2006

ISSN: 1651-2227 (electronic) 0803-5253 (paper)
Publication Frequency: 12 issues per year

The circumstances under which this title is published have changed:

Reason for change: Changed Publisher
Now published by: Blackwell
Date of change: 31 December 2006

    Issue Purchase: No online purchase options available.
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Original Articles
FOREWORD
Michael Beck;  Timothy M. Cox;  Atul B. Mehta; Urs Widmer
Pages 5 – 6
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Commentary
Understanding the biology of X-linked diseases
Amparo Chabás; Rudolf Happle
Pages 9 – 10
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Original Articles
The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked
William B. Dobyns
Pages 11 – 15
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X-chromosome inactivation: role in skin disease expression
Rudolf Happle
Pages 16 – 23
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Skewed X inactivation in healthy individuals and in different diseases
Karen Helene Ørstavik
Pages 24 – 29
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Disease manifestations and X inactivation in heterozygous females with Fabry disease
Esther M. Maier;  Stephanie Osterrieder;  Catharina Whybra;  Markus Ries;  Andreas Gal;  Michael Beck;  Adelbert A. Roscher; Ania C. Muntau
Pages 30 – 38
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Commentary
Assessing multiorgan disease severity: scoring systems and applicability in LSDs
Michael Beck; Urs Widmer
Pages 41 – 42
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Original Articles
The Mainz Severity Score Index (MSSI): development and validation of a system for scoring the signs and symptoms of Fabry disease
Michael Beck
Pages 43 – 46
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The use of scoring systems in patients with haematological malignancy
Derralynn A. Hughes
Pages 47 – 51
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Commentary
CNS pathology and vascular/circulatory abnormalities in Fabry disease
Edwin H. Kolodny; Gregory M. Pastores
Pages 55 – 56
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Original Articles
Magnetic resonance imaging changes in Fabry disease
Lionel Ginsberg;  Renzo Manara;  Alan R. Valentine;  Brian Kendall; Alessandro P. Burlina
Pages 57 – 62
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Increased carotid intima–media thickness in the absence of atherosclerotic plaques in an adult population with Fabry disease
Frédéric Barbey;  Noureddine Brakch;  Aleš Linhart;  Xavier Jeanrenaud;  Thomas Palecek;  Jan Bultas;  Michel Burnier; Daniel Hayoz
Pages 63 – 68
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Fabry disease and vascular risk factors: future strategies for patient-based studies and the knockout murine model
David F. Moore;  Monique P. Gelderman;  Steven R. Fuhrmann;  Raphael Schiffmann;  Roscoe O. Brady; Ehud Goldin
Pages 69 – 71
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Commentary
Damage at the cellular and organ levels in LSDs: possibility for prevention/reversibility with ERT
Timothy M. Cox; Michael Beck
Pages 75 – 76
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Original Articles
Lysosomal dysfunction, cellular pathology and clinical symptoms: basic principles
Arnold J. J. Reuser; Maarten R. Drost
Pages 77 – 82
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Inhibition and reversibility of renal changes: lessons from diabetic kidney disease
Allan Flyvbjerg
Pages 83 – 92
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Reversibility of cellular and organ pathology in enzyme replacement trials in animal models of lysosomal storage diseases
Volkmar Gieselmann
Pages 93 – 99
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Original Article
Gaucher disease: multiple lessons from a single gene disorder
Ernest Beutler
Pages 103 – 109
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