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Acta Paediatrica, Volume 92 Supplement 443 2003

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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Foreword
Foreword
Michael Beck;  Timothy M. Cox; Roberta Ricci
Page 1
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Commentary
Renal manifestations in Fabry disease: diagnosis, management and unresolved issues
J-P Grünfeld; A. Sessa
Page 5
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Article
Evolution of renal pathology in Fabry disease
A. Sessa;  M. Meroni;  G. Battini;  M. Righetti;  M. Nebuloni;  A. Tosoni; GL Vago
Pages 6 – 8
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Proteinuria and its consequences in renal disease
A. Schieppati; G. Remuzzi
Pages 9 – 13
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Effects of enzyme replacement therapy with agalsidase alfa on glomerular filtration rate in patients with Fabry disease: preliminary data
F. Dehout;  A. Schwarting;  M. Beck;  A. Mehta;  R. Ricci; U. Widmer
Pages 14 – 15
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Plenary lecture
Gaucher and Fabry diseases: from understanding pathophysiology to rational therapies
RO Brady
Pages 19 – 24
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Commentary
The inner ear in Fabry disease
A. Mehta
Page 27
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Article
Hearing improvement in patients with Fabry disease treated with agalsidase alfa
D. Hajioff;  S. Goodwin;  R. Quiney;  J. Zuckerman;  KD MacDermot; A. Mehta
Pages 28 – 30
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Inner ear function in children with Fabry disease
A. Keilmann
Pages 31 – 32
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Auditory and vestibular findings in Fabry disease: a study of hemizygous males and heterozygous females
G. Conti; B. Sergi
Pages 33 – 37
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Head-impulse testing in Fabry disease – vestibular function in male and female patients
A. Palla;  U. Widmer; D. Straumann
Pages 38 – 42
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Commentary
Cellular reactions to abnormal lysosomal storage
V. Gieselmann
Page 45
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Article
Sequelae of storage in Fabry disease – pathology and comparison with other lysosomal storage diseases
M. Elleder
Pages 46 – 53
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Are animal models useful for understanding the pathophysiology of lysosomal storage disease?
K. Suzuki;  T. Ezoe;  J. Tohyama;  J. Matsuda;  MT Vanier; K. Suzuki
Pages 54 – 62
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Differential trafficking of the Niemann–Pick C1 and 2 proteins highlights distinct roles in late endocytic lipid trafficking
M. Zhang;  M. Sun;  NK Dwyer;  ME Comly;  SC Patel;  R. Sundaram;  JA Hanover; EJ Blanchette-Mackie
Pages 63 – 73
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Metachromatic leukodystrophy: consequences of sulphatide accumulation
V. Gieselmann;  S. Franken;  D. Klein;  JE Mansson;  R. Sandhoff;  R Lüllmann Rauch;  D. Hartmann;  VPM Saravanan;  PP De Deyn;  R. D'Hooge;  AM Van Der Linden; N. Schaeren-Wiemers
Pages 74 – 79
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Understanding and circumventing the blood–brain barrier
DJ Begley
Pages 83 – 91
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Poster abstracts
Fabry disease – cardiovascular aspects
Pages 95 – 102
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Article
Fabry disease – quality of life, disease in children and females, genetics and diagnosis
Pages 103 – 109
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Fabry disease – gastrointestinal symptoms, renal aspects, neurological and ocular manifestations
Pages 110 – 115
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Gaucher disease and diagnostic and therapeutic aspects in lysosomal storage diseases
Pages 116 – 122
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Mucopolysaccharidosis disorders and other lysosomal storage diseases
Pages 123 – 128
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