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Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA

Molecular genetics and metabolism, 2013-09, Vol.110 (1-2), p.54-64

2013

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The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

Molecular genetics and metabolism, 2017-09, Vol.122 (1-2), p.107-112

2017

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Multidisciplinary management of Hunter syndrome

Pediatrics (Evanston), 2009-12, Vol.124 (6), p.e1228

2009

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Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy

Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.385-394

2013

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Relationship between labile plasma iron, liver iron concentration and cardiac response in a deferasirox monotherapy trial

Haematologica (Roma), 2011-07, Vol.96 (7), p.1055-1058

2011

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Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients

Molecular genetics and metabolism reports, 2017-09, Vol.12 (C), p.2-7

2017

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Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis

British Journal of Ophthalmology, 2011-05, Vol.95 (5), p.613-619

2011

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Expert recommendations for the laboratory diagnosis of MPS VI

Molecular genetics and metabolism, 2012-05, Vol.106 (1), p.73-82

2012

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Data from subjects receiving intrathecal laronidase for cervical spinal stenosis due to mucopolysaccharidosis type I

Data in brief, 2015-12, Vol.5 (C), p.71-76

2015

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Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study

Acta pædiatrica (Oslo), 2005-03, Vol.94 (447), p.61-68

2005

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Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

Genetics in medicine, 2011-02, Vol.13 (2), p.95-101

2011

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The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

Molecular genetics and metabolism, 2013-05, Vol.109 (1), p.41-48

2013

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ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy

Human mutation, 2020-09, Vol.41 (9), p.1469-1487

2020

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Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy

Human mutation, 2004-03, Vol.23 (3), p.229-233

2004

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Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase

Pediatrics (Evanston), 2005-06, Vol.115 (6), p.e681

2005

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Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

The Journal of pediatrics, 2004-05, Vol.144 (5), p.574-580

2004

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Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey

Genetics in medicine, 2010-12, Vol.12 (12), p.816-822

2010

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81 Cardiac findings in MPS VI patients after enzyme replacement therapy

Molecular genetics and metabolism, 2007-12, Vol.92 (4), p.29-29

2007

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29 Clinical benefit of enzyme replacement therapy (ERT) in mucopolysaccharidosis II (MPS II, Hunter syndrome)

Molecular genetics and metabolism, 2007-12, Vol.92 (4), p.18-18

2007

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39 Formation of a Lysosomal Disease Testing Network to enhance the delivery of diagnostic services to patients with lysosomal storage disorders

Molecular genetics and metabolism, 2007-12, Vol.92 (4), p.20-20

2007

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Monitoring Long-Term Efficacy of Iron Chelation Treatment with Biomagnetic Liver Susceptometry

Annals of the New York Academy of Sciences, 2005-01, Vol.1054 (1), p.350-357

2005

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Differential regulation of B7 mRNA in enterocytes and lymphoid cells

Immunology, 1993-07, Vol.79 (3), p.434-438

1993

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A phase 1 dose-escalation study: safety, tolerability, and pharmacokinetics of FBS0701, a novel oral iron chelator for the treatment of transfusional iron overload

Haematologica (Roma), 2011-04, Vol.96 (4), p.521-525

2011

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Polyamines in human and rat milk influence intestinal cell growth in vitro

Journal of pediatric gastroenterology and nutrition, 1998-09, Vol.27 (3), p.281-286

1998

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Comparison of organ dysfunction in transfused patients with SCD or β thalassemia

American journal of hematology, 2005-09, Vol.80 (1), p.70-74

2005

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Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA

The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

Multidisciplinary management of Hunter syndrome

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy

Relationship between labile plasma iron, liver iron concentration and cardiac response in a deferasirox monotherapy trial

Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients

Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis

Expert recommendations for the laboratory diagnosis of MPS VI

Data from subjects receiving intrathecal laronidase for cervical spinal stenosis due to mucopolysaccharidosis type I

Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study

Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy

Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy

Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase

Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey

81 Cardiac findings in MPS VI patients after enzyme replacement therapy

29 Clinical benefit of enzyme replacement therapy (ERT) in mucopolysaccharidosis II (MPS II, Hunter syndrome)

39 Formation of a Lysosomal Disease Testing Network to enhance the delivery of diagnostic services to patients with lysosomal storage disorders

Monitoring Long-Term Efficacy of Iron Chelation Treatment with Biomagnetic Liver Susceptometry

Differential regulation of B7 mRNA in enterocytes and lymphoid cells

A phase 1 dose-escalation study: safety, tolerability, and pharmacokinetics of FBS0701, a novel oral iron chelator for the treatment of transfusional iron overload

Polyamines in human and rat milk influence intestinal cell growth in vitro

Comparison of organ dysfunction in transfused patients with SCD or β thalassemia

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