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Abstract 4396: Clinical Response to Recombinant Acid α-Glucosidase is Predicted by Cardiac Outcome Measures in Children with Pompe Disease

Circulation (New York, N.Y.), 2008-10, Vol.118 (suppl_18)

2008

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Circadian rhythm and suprachiasmatic nucleus alterations in the mouse model of mucopolysaccharidosis IIIB

Behavioural brain research, 2010-06, Vol.209 (2), p.212-220

2010

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Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I

Acta Paediatrica, 2005-07, Vol.94 (7), p.872-877

2005

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Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I

Acta pædiatrica (Oslo), 2005-07, Vol.94 (7), p.872-877

2005

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Craniovertebral abnormalities in Type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)

Neurosurgery, 2001-04, Vol.48 (4), p.849-853

2001

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A CURIOUS FORMATION OF HORSE'S SKULL

Scientific American, 1904-07, Vol.XCI (No. 2.), p.31

BY ED. J. C. WRAITH

1904

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A CURIOUS FORMATION OF HORSE'S SKULL

Scientific American, 1904-07, Vol.91 (2), p.31-31

WRAITH, ED. J. C.

1904

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Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA

Pediatric research, 2004-04, Vol.55 (4), p.592-597

2004

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Effect of discontinuing of laronidase in a patient with mucopolysaccharidosis type I

Journal of inherited metabolic disease, 2006-02, Vol.29 (1), p.230-231

2006

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Enzyme Replacement Therapy and Extended Newborn Screening for Mucopolysaccharidoses: Opinions of Treating Physicians

JIMD Reports - Case and Research Reports, 2011/1, 2011-01, Vol.1, p.9-15

2011

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Enzyme Replacement Therapy for Mucopolysaccharidoses: Opinions of Patients and Families

The Journal of pediatrics, 2008-05, Vol.152 (5), p.723-727

2008

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Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)

The Journal of pediatrics, 2004-05, Vol.144 (5), p.581-588

2004

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Evaluation of heparin cofactor II–thrombin complex as a biomarker on blood spots from mucopolysaccharidosis I, IIIA and IIIB mice

Molecular genetics and metabolism, 2010-03, Vol.99 (3), p.269-274

2010

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Excess Heparan Sulphate Inhibits CXCL12-Mediated Hematopoietic Cell Migration and Engraftment After Bone Marrow Transplant in Mice with Mucopolysaccharidosis Type I

Blood, 2011-11, Vol.118 (21), p.4010-4010

2011

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Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome

Human genetics, 1991-03, Vol.86 (5), p.505-508

1991

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Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease

PloS one, 2010-12, Vol.5 (12), p.e14192-e14192

2010

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Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice

Molecular genetics and metabolism, 2009-11, Vol.98 (3), p.235-242

2009

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Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler’s syndrome after pharmacological enzyme replacement therapy

Haematologica (Roma), 2012-09, Vol.97 (9), p.1320-1328

2012

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Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases

Journal of inherited metabolic disease, 2011-04, Vol.34 (2), p.499-508

2011

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High dose genistein in Sanfilippo syndrome: A randomised controlled trial

Journal of inherited metabolic disease, 2021-09, Vol.44 (5), p.1248-1262

2021

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Improved Metabolic Correction in Patients with Lysosomal Storage Disease Treated with Hematopoietic Stem Cell Transplant Compared with Enzyme Replacement Therapy

The Journal of pediatrics, 2009-04, Vol.154 (4), p.609-611

2009

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Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet

The Journal of pediatrics, 2000-04, Vol.136 (4), p.545-547

2000

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A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing

JIMD Reports - Volume 11, 2013, Vol.11, p.13-16

2013

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Laronidase treatment of mucopolysaccharidosis I

BioDrugs : clinical immunotherapeutics, biopharmaceuticals, and gene therapy, 2005, Vol.19 (1), p.1-7

2005

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Limitations of enzyme replacement therapy: Current and future

Journal of inherited metabolic disease, 2006-04, Vol.29 (2-3), p.442-447

Wraith, J. E.

2006

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Abstract 4396: Clinical Response to Recombinant Acid α-Glucosidase is Predicted by Cardiac Outcome Measures in Children with Pompe Disease

Circadian rhythm and suprachiasmatic nucleus alterations in the mouse model of mucopolysaccharidosis IIIB

Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I

Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I

Craniovertebral abnormalities in Type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)

A CURIOUS FORMATION OF HORSE'S SKULL

A CURIOUS FORMATION OF HORSE'S SKULL

Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA

Effect of discontinuing of laronidase in a patient with mucopolysaccharidosis type I

Enzyme Replacement Therapy and Extended Newborn Screening for Mucopolysaccharidoses: Opinions of Treating Physicians

Enzyme Replacement Therapy for Mucopolysaccharidoses: Opinions of Patients and Families

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)

Evaluation of heparin cofactor II–thrombin complex as a biomarker on blood spots from mucopolysaccharidosis I, IIIA and IIIB mice

Excess Heparan Sulphate Inhibits CXCL12-Mediated Hematopoietic Cell Migration and Engraftment After Bone Marrow Transplant in Mice with Mucopolysaccharidosis Type I

Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome

Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease

Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice

Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler’s syndrome after pharmacological enzyme replacement therapy

Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases

High dose genistein in Sanfilippo syndrome: A randomised controlled trial

Improved Metabolic Correction in Patients with Lysosomal Storage Disease Treated with Hematopoietic Stem Cell Transplant Compared with Enzyme Replacement Therapy

Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet

A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing

Laronidase treatment of mucopolysaccharidosis I

Limitations of enzyme replacement therapy: Current and future

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