Volume 91; Issue Supplement

Main
Acta Paediatrica
Volume 91; Issue Supplement

Acta Paediatrica

Volume 91; Issue Supplement

1

Preface

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 30 KB

english, 2002

2

Role of platelet-activating factor in the pathophysiology of necrotizing enterocolitis

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 87 KB

english, 2002

3

Origins of reactive airways disease in early life: do viral infections play a role?

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 882 KB

english, 2002

4

ORACLE—antibiotics for preterm prelabour rupture of the membranes: short-term and long-term outcomes

S Kenyon, DJ Taylor, WO Tarnow-Mordi, ORACLE Collaborative Group

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 89 KB

english, 2002

5

Prophylactic high-frequency oscillatory ventilation in preterm infants

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 77 KB

english, 2002

6

Respiratory mechanical unloading and proportional assist ventilation in infants

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 99 KB

english, 2002

7

Role of oxidant injury in the pathogenesis of neonatal lung disease

Jonathan M Davis

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 96 KB

english, 2002

8

Pathogenesis of retinopathy of prematurity

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 78 KB

english, 2002

9

CPICS: child and parents' interaction coding system in dyads and triads

M Hedenbro, A Lidén

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 412 KB

english, 2002

10

Neonatal Hematology and Immunology International Workshop and Conference Orlando, Florida 14-16 November 2002

Robert D. Christensen

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 44 KB

english, 2002

11

Embryonic hematopoiesis in mice and humans

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 102 KB

english, 2002

12

Developmental biology of the dendritic cell system

KR Schibler, A Georgelas, A Rigaa

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 222 KB

english, 2002

13

Physiology of erythropoietin during mammalian development

S Halvorsen, AG Bechensteen

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 215 KB

english, 2002

14

Erythropoietin and hypoxia inducible factor-1 expression in the mid-trimester human fetus

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 139 KB

english, 2002

15

Roles of erythropoietin in human milk

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 100 KB

english, 2002

16

Erythropoietin in the central nervous system, and its use to prevent hypoxic-ischemic brain damage

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 163 KB

english, 2002

17

Enteral administration of hematopoietic growth factors in the neonatal intensive care unit

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 309 KB

english, 2002

18

Developmental biology of thrombopoietin in the human fetus and neonate

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 236 KB

english, 2002

19

Mechanisms underlying thrombocytopenia in the neonatal intensive care unit

MC Sola, LM Rimsza

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 147 KB

english, 2002

20

Evaluation and treatment of thrombocytopenia in the neonatal intensive care unit

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 154 KB

english, 2002

21

Use of the bleeding time in the neonatal intensive care unit

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 103 KB

english, 2002

22

Prothrombotic factors in neonates with cerebral thrombosis and intraventricular hemorrhage

S Aronis, H Bouza, H Pergantou, Z Kapsimalis, H Platokouki, M Xanthou

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 98 KB

english, 2002

23

Inflammatory mediators in perinatal asphyxia and infection

M Xanthou, S Fotopoulos, A Mouchtouri, N Lipsou, I Zika, J Sarafidou

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 157 KB

english, 2002

24

Immune-mediated neutropenia in the neonate

A Maheshwari, RD Christensen, DA Calhoun

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 130 KB

english, 2002

25

Late-onset neutropenia in very low birthweight infants

G Chirico, M Motta, P Villani, A Cavazza, ML Cardone

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 107 KB

english, 2002

26

What is the rationale for the use of granulocyte and granulocyte-macrophage colony-stimulating factors in the neonatal intensive care unit

EF La Gamma, MH De Castro

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 177 KB

english, 2002

27

Deficient interferon-γ receptor-mediated signaling in neonatal macrophages

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 92 KB

english, 2002

28

Using fluorescence-activated cell sorting followed by fluorescence in situ hybridization to study lineage relationships: the 8;21 translocation is present in neutrophils but not monocytes in a patient with severe congenital neutropenia and a granulocyte colony-stimulating factor-responsive clonal abnormality

C White, Z Chen, E Raetz, M Pulsipher, GJ Spangrade, WB Slayton

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 115 KB

english, 2002

29

Perinatal aspects of iron metabolism

R Rao, MK Georgieff

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 129 KB

english, 2002

30

Oxidant injury in neonatal erythrocytes during the perinatal period

R Bracci, S Perrone, G Buonocore

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 109 KB

english, 2002

31

New biomarkers of fetal-neonatal hypoxic stress

S Perrone, R Bracci, G Buonocore

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 131 KB

english, 2002

32

Foreword

Michael Beck, Timothy M Cox, Marie T Vanier

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 50 KB

english, 2002

33

Angiokeratoma corporis diffusum – Fabry disease: historical review from the original description to the introduction of enzyme replacement therapy

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 80 KB

english, 2002

34

Aetiology and pathogenesis of hypertrophic cardiomyopathy

R Lombardi, S Betocchi

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 186 KB

english, 2002

35

Cardiac involvement in Fabry disease

A Linhart, S Magage, T Palecek, J Bultas

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 701 KB

english, 2002

36

Electrocardiographic signs of hypertrophy in Fabry disease-associated hypertrophic cardiomyopathy

C Kampmann, CM Wiethoff, C Martin, A Wenzel, R Kampmann, C Whybra, E Miebach, M Beck

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 147 KB

english, 2002

37

Isolated cardiac manifestations in Fabry disease: the UK experience

B Sachdev, PM Elliott

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 122 KB

english, 2002

38

Mechanisms of neuropathic pain and their importance in Fabry disease

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 136 KB

english, 2002

39

Evaluation of peripheral and autonomic nerve function in Fabry disease

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 129 KB

english, 2002

40

Pain assessment: the advantages of using pain scales in lysosomal storage diseases

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 297 KB

english, 2002

41

Pathophysiology and assessment of neuropathic pain in Fabry disease

R Schiffmann, LJC Scott

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 191 KB

english, 2002

42

COMMENTARY

B Koletzko, DP Germain

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 63 KB

english, 2002

43

Endothelial markers and homocysteine in patients with classic Fabry disease

K Demuth, DP Germain

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 131 KB

english, 2002

44

Arterial remodelling in Fabry disease

P Boutouyrie, S Laurent, B Laloux, O Lidove, JP Grunfeld, DP Germain

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 138 KB

english, 2002

45

Elevated CNS average diffusion constant in Fabry disease

DF Moore, R Schiffmann, AM Ulug

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 86 KB

english, 2002

46

Enzyme replacement therapy: from concept to clinical practice

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 153 KB

english, 2002

47

Mucopolysaccharidosis type II – genotype/phenotype aspects

R Froissart, I Moreira da Silva, N Guffon, D Bozon, I Maire

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 120 KB

english, 2002

48

Animal models for mucopolysaccharidoses and their clinical relevance

M Haskins, M Casal, NM Ellinwood, J Melniczek, H Mazrier, U Giger

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 186 KB

english, 2002

49

Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report

J Muenzer, JC Lamsa, A Garcia, J Dacosta, J Garcia, DA Treco

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 66 KB

english, 2002

50

Non-viral transfer approaches for the gene therapy of mucopolysaccharidosis type II (Hunter syndrome)

R Tomanin, A Friso, S Alba, E Piller Puicher, C Mennuni, N La Monica, G Hortelano, F Zacchello, M Scarpa

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 186 KB

english, 2002

51

X-chromosome inactivation and human genetic disease

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 126 KB

english, 2002

52

Epidemiological study of Italian patients with Fabry disease

R Ricci, D Antuzzi, D Rigante, A Frustaci, A Burlina, S Catuogno, O Gabrielli, I Burattini, F Brambillasca, R Ravaglia, R Parini, W Borsini, F Martinelli, C Spisni, S Feriozzi, M Aricò, G Pistone, MG

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 72 KB

english, 2002

53

Fabry disease in Belgium: ascertainment of 12 families

D Roland, P Hilbert, F Dehout, Y Pirson, L Van Maldergem

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 72 KB

english, 2002

54

A Nova Scotia kindred with Fabry disease

M West, S Dyack, C Riddell, K Lemoine, C Camfield, P Camfield

Journal:

Acta Paediatrica

Year:

2002

File:

PDF, 142 KB

2002

55

Fabry disease in a Venezuelan family

R Apitz-Castro, F López, H Resnik-Wolf, I Sarban, EJ Holtzman

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 160 KB

english, 2002

56

Lysosomal storage diseases and related disorders: the Argentina (Córdoba) experience

R Dodelson de Kremer, A Paschini-Capra, C Depetris-Boldini, A Oller-Ramírez, A Giner-Ayala, N Guelbert, C Angaroni, L Laróvere, A Latini, G Civallero

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 160 KB

english, 2002

57

The Austrian screening programme for Fabry disease

AC Hauser, M Lorenz, G Sunder-Plassmann

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 164 KB

english, 2002

58

Relationship between genotype and phenotype in 26 Danish patients with Fabry disease

H Mersebach, C Schiøtz, ÅK Rasmussen, KM Rosenberg, L Hasholt, SA Sørensen, L Køber, VR Sørensen, B Feldt-Rasmussen, U Feldt-Rasmussen

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 164 KB

english, 2002

59

Genotype-phenotype correlation in Fabry disease: studies in ten unrelated families

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 164 KB

english, 2002

60

Fabry disease: from clinical manifestations to molecular mechanisms

K Azibi, C Heltianu, C Caillaud, J Manicom, JP Puech, A Kahn, L Poenaru

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 164 KB

english, 2002

61

Identification of new mutations and one polymorphism (D313Y) in patients with Fabry disease

R Froissart, N Guffon, V Bonnet, I Maire

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 165 KB

english, 2002

62

Molecular genetic mutation analysis in patients with Fabry disease

A László, E Endreffy, L Török, JK Ploos van Amstel

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 165 KB

english, 2002

63

How do mutations influence the residual activity of α-galactosidase in Fabry heterozygotes?

E Paschke, K Paul, T Kröpfl, B Plecko, P Kotanko

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 169 KB

english, 2002

64

α-Galactosidase enzymology does not predict symptomatic Fabry heterozygotes

JM Fletcher, PV Nelson, V Muller, P Clements, JR Harrison, M Fietz, JJ Hopwood

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 168 KB

english, 2002

65

Fabry disease in genetic counselling practice: recommendations of the National Society of Genetic Counsellors

RI Bennett, K Hart, E O'Rourke, JA Barranger, J Johnson, K Macdermot, GM Pastores, RD Steiner, R Thadhani

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 165 KB

english, 2002

66

Development of a high-performance liquid chromatography procedure for the quantification of neutral glycosphingolipids in samples from patients with Fabry disease

P Daniel, G Wiederschain, J Ruiz

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 175 KB

english, 2002

67

A study of plasma and urinary sediment globotriaosylceramide levels in females with Fabry disease

P Daniel, S Park, F Baehner, M Beck

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 165 KB

english, 2002

68

Influence of blood groups B or AB on phenotype in a population of hemizygous patients with Fabry disease

O Lidove, D Joly, F Barbey

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 165 KB

english, 2002

69

Pathophysiology of neuropathic pain in Fabry disease: evidence of C fibre sensitization

M Valeriani, P Mariotti, D Restuccia, D Le Pera, L De Armas, T Maiese, P Tonali, R Ricci

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 179 KB

english, 2002

70

Neurophysiological studies in Fabry disease

J Becker, I Gomes, D Nora, IVD Schwartz, P Ashton-Prolla, L Kalakun, C Cecchin, JA Ehlers, R Giugliani, L Jardim

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 169 KB

english, 2002

71

Cross-sectional analysis of renal disease in the Nova Scotia Fabry disease kindred

M West, K Lemoine, C Simms, S Dyack

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 172 KB

english, 2002

72

The incidence of gastrointestinal symptoms in a cohort of 15 patients with Fabry disease - a questionnaire survey

M Boyden, Y Enever, T Hamilton, A Mehta, J Zuckerman

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 172 KB

english, 2002

73

Pulmonary involvement in Fabry disease

F Barbey, O Lidove, S Wicky, J Theytaz, JD Aubert

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 172 KB

english, 2002

74

Vestibular function in Fabry disease

A Palla, U Widmer, G Schulthess, A Ciurea, D Straumann

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 172 KB

english, 2002

75

Natural history of cardiac involvement in hemizygote Fabry patients

G Altarescu, D Moore, R Schiffmann

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 176 KB

english, 2002

76

Cardiovascular manifestations in females with Fabry disease

B Sachdev, L Richfield, R Thaman, S Firoozi, AB Mehta, PM Elliott

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 185 KB

english, 2002

77

Abnormal endothelial-dependent and -independent flow-mediated dilation in a group of patients with Fabry disease: a possible relationship with abnormalities of diastolic filling

RM Iwanochko, J Wherrett, S Siu, N Merchant, Y Provost, T Heeney, J Clarke

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 172 KB

english, 2002

78

Marked elevation of plasma von Willebrand factor antigen levels in hemizygous males with Fabry disease

J O'Donnell, D Hughes, A Riddell, S Brown, L Richfield, A Mehta

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 173 KB

english, 2002

79

Fabry disease presenting as atypical stroke

JTR Clarke, C Jaigobin, JR Wherrett, T Heeney, RM Iwanochko

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 181 KB

english, 2002

80

High plasma homocysteine concentrations in cerebrovascular patients with Fabry disease

S Büchner, S Fedi, F Gensini, F Martinelli, F Torricelli, G Arnetoli, R Abbate, W Borsini

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 171 KB

english, 2002

81

Severity of macrovascular involvement in Fabry disease: is there a correlation with interventricular septum thickness?

F Barbey, E Haesler, D Teta, S Wicky, J Theytaz, D Hayoz

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 171 KB

english, 2002

82

Retinal manifestations in three families with Fabry disease

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 171 KB

english, 2002

83

Renal transplantation in the Nova Scotia Fabry disease kindred

M West, K Lemoine, R Mckillup, J Harnett

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 172 KB

english, 2002

84

Fabry Outcome Survey: the UK implementation experience

AB Mehta, Y Enever, S Evans, T Hamilton, L Richfield

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 172 KB

english, 2002

85

Incidental diagnosis of Fabry disease in a patient with hypertrophic obstructive cardiomyopathy not responding to catheter intervention therapy

G Beer, P Reinecke, HE Gabbert, H Kuhn

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 168 KB

english, 2002

86

Comparison of single and multiple doses of agalsidase alfa on tissue accumulation of globotriaosylcermide in Fabry knockout mice

P Daniel, M Myers, G Murray, R Schiffmann, R Brady, D Treco

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 176 KB

english, 2002

87

Interspecies scaling of pharmacokinetics of agalsidase alfa: implications for tissue biodistribution

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 185 KB

english, 2002

88

Pharmacokinetics of agalsidase alfa in male and female patients with Fabry disease

KS Loveday, C Brucato, T Colasurdo, R Gamble, J Lieb, M Sellos-Moura, T Schuetz, F Baehner, M Beck

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 172 KB

english, 2002

89

Therapy – home versus hospital? A questionnaire survey in patients with Fabry and Gaucher diseases

M Boyden, Y Enever, T Hamilton, L Richfield, A Mehta, J Zuckerman

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 180 KB

english, 2002

90

Home therapy for lysosomal storage diseases: “Be it ever so humble – there's no place like home”

J Stephenson, T Hayward, G Jones

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 171 KB

english, 2002

91

Hearing loss in Fabry disease: the effect of α-galactosidase A replacement therapy

D Hajioff, Y Enever, R Quiney, A Mehta

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 172 KB

english, 2002

92

Effect of enzyme replacement therapy on the ocular manifestations of Fabry disease

P Tranos, S Wickremasinghe, P Wilson, A Mehta, C Davey

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 172 KB

english, 2002

93

Changes in serum cystatin C during enzyme replacement therapy in Fabry disease

R Ricci, M Castorina, D Antuzzi, C Rendeli, T de Michele

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 172 KB

english, 2002

94

Agalsidase alfa treatment in patients with Fabry disease following renal transplantation

K Nicholls, E Centra, B Lehmann, G Becker

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 172 KB

english, 2002

95

Agalsidase alfa transfusion reaction is not IgE mediated

D Ostovan, S Ulrich, G Schulthess, U Widmer

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 168 KB

english, 2002

96

Diagnosis of Fabry disease in the grandfather after recognition in a child

F Brambillasca, F Menni, F Furlan, R Ravaglia, A Sessa, R Parini

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 175 KB

english, 2002

97

Four Tunisian cases of Fabry Disease

H Ben Turkia, N Tebib, MS Abdelmoula, MF Ben Dridi

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 175 KB

english, 2002

98

One-year experience with agalsidase alfa in a patient with Fabry disease on peritoneal dialysis

C Spisni, R Di Vito, A Stingone, S Stuard, B D'angelo, L Caravelli, M Mascitti

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 173 KB

english, 2002

99

Gastrointestinal manifestations in a patient with Fabry disease

MA Barba Romero, P Ferreras Fernández, M Melero Bascones, JA Sáez Barcelona, V Martí Soler

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 173 KB

english, 2002

100

Gastrointestinal symptoms in Fabry disease: a case report

BE Hoffmann, B Koletzko

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 172 KB

english, 2002

101

Angiokeratoma of the glans penis: successful treatment with Nd: YAG laser

FG Bechara, M Huesmann, P Altmeyer, K Hoffmann, T Jansen

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 172 KB

english, 2002

102

Autonomic failure with a fatal outcome in Fabry disease

GM Pastores, GA Charria, N Barnett, M Hilz, EH Kolodny

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 170 KB

english, 2002

103

Sanfilippo disease type B and neonatal supraventricular tachycardia

K Monastiri, B Seket, S Hammami, C Chouchane, C Ben Meriem, S Chouchane, F Maatouk, A Miled, I Maire, MN Guediche

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 174 KB

english, 2002

104

Sleep apnoea in patients with mucopolysaccharidoses

SF Canani, IVD Schwartz, AC Azevedo, JC Fraga, SSM Barreto, R Giugliani

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 174 KB

english, 2002

105

The skeletal changes in Hurler syndrome after bone marrow transplantation

N Elçioglu, CM Hall, A Vellodi

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 173 KB

english, 2002

106

A comprehensive and nationwide study of Hunter disease in Brazil

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 173 KB

english, 2002

107

Clinical-neuroradiological correlation in patients with mucopolysaccharidosis type II

O Gabrielli, V Petroni, I Burattini, S Bruni, T Popolizio, T Scarabino, GV Coppa

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 172 KB

english, 2002

108

Phenotypic variation in patients with severe Hunter syndrome

M Dasouki, M Begleiter, J Thompson

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 172 KB

english, 2002

109

Incidence of mucopolysaccharidoses in central and south Tunisia

K Monastiri, S Laradi, K Limam, M Yacoub, I Maire, A Miled

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 172 KB

english, 2002

110

Molecular analysis of a mild form of mucopolysaccharidosis VII: novel mutations and expression studies

S Storch, B Wittenstein, J Grubb, K Ullrich, WS Sly, T Braulke

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 172 KB

english, 2002

111

Methylation patterns of entire human β-glucuronidase gene locus: boundaries of methylation and general implications for frequent point mutations at CpG dinucleotides

S Tomatsu, K Orii, WS Sly

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 175 KB

english, 2002

112

Secondary changes in lysosomal storage diseases

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 175 KB

english, 2002

113

Towards a new treatment: role of the International Morquio Registry

S Tomatsu, M Harings, T Orii, WS Sly

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 173 KB

english, 2002

114

Mouse model of Morquio A syndrome (Galns-/-) produced by targeted disruption of the gene encoding N-acetylgalactosamine-6-sulphate sulphatase

S Tomatsu, KO Orii, C Vogler, EM Snella, JH Grubb, MA Gutierrez, A Montano, K Sukegawa, T Orii, N Kondo, WS Sly

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 173 KB

english, 2002

115

A new approach to develop mice models by targeted mutagenesis: production of a mucopolysccharidosis type VII mouse(Gustm(hE540A · mE536A)sly) doubly tolerant to human and mouse β-glucuronidase

S Tomatsu, KO Orii, C Vogler, JH Grubb, T Orii, WS Sly

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 173 KB

english, 2002

116

Missense models (Gustm(L175F)Sly, Gustm(E536A)sly, and Gustm(E536Q)sly) of murine mucopolysaccharidosis type VII produced by targeted mutagenesis

S Tomatsu, KO Orii, C Vogler, JH Grubb, EM Snella, MA Gutierrez, T Dieter, T Orii, WS Sly

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 182 KB

english, 2002

117

Demography and profile of Gaucher disease in Argentina and Paraguay

M Aggio, V Fernández, D González

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 172 KB

english, 2002

118

Chitotriosidase: is it a useful biochemical marker for the assessment of Fabry patients treated by enzyme replacement therapy?

K Michelin, IV Schwartz, P Ashton-Prolla, S Brustolin, U Matte, M Burin, R Giugliani, JC Coelho

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 180 KB

english, 2002

119

Enzyme replacement therapy for Gaucher disease in Australia

J Goldblatt, J Fletcher, J Mcgill, J Rowell, J Szer, M Wilson

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 171 KB

english, 2002

120

Clinical variability in sphingomyelinase deficiency

E Miebach, E Mengel, M Ries, M Beck

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 176 KB

english, 2002

121

Gene transfer in the Sandhoff mouse model using viral vectors

C Bourgoin, C Emiliani, A Gelot, B Tancini, L Poenaru, C Caillaud

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 176 KB

english, 2002

122

Metachromatic leukodystrophy: relationship between phenotype and mutations in arylsulphatase A in adult forms

N Baumann, M Lefèvre, B Colsch, JC Turpin

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 171 KB

english, 2002

123

Infantile GM1 gangliosidosis without dysmorphic features

N Stieb, M Beck

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 171 KB

english, 2002

124

Aspartylglucosaminuria in two siblings

M Bajbouj, M Beck

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 172 KB

english, 2002

125

Fucosidosis: Is haematological stem cell transplantation a therapeutic option?

KS Kim, JC von Kleist-Retzow, M Beck

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 172 KB

english, 2002

126

Danon disease (X-linked vacuolar myopathy): a case with a novel LAMP-2 mutation

L Lacoste-Collin, V Garcia, E Uro-Coste, MC Arne-Bes, D Durand, T Levade, MB Delisle

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 173 KB

english, 2002

127

Mucolipidoses II (I-cell disease): case report

N Elçioglu, F Akalin, A Fensom

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 181 KB

english, 2002

128

Infantile free sialic acid storage disease: follow-up of two siblings into late childhood

G Duran, G Repetto, F Cavagnaro

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 171 KB

english, 2002

129

GLB1 new polymorphism interferes with the residual enzymatic activity of mutated β-galactosidase

A Caciotti, T Bardelli, A D'azzo, E Zammarchi, A Morrone

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 171 KB

english, 2002

130

Differential diagnosis of Gaucher and Niemann-Pick disease in early childhood

E Mengel, E Miebach, M Ries, M Beck

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 166 KB

english, 2002

131

COMMENTARY

J Muenzer, M Scarpa

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 52 KB

english, 2002