J. E. Wraith

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Enzyme replacement therapy with laronidase (Aldurazyme(®)) for treating mucopolysaccharidosis type I.

E. Jameson, S. Jones, J. E. Wraith, 2013, The Cochrane database of systematic reviews.

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.

Anneliese O. Speak, A. Speak, H. Runz, 2014, The Journal of clinical investigation.

Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS)

C. Hendriksz, U. Ramaswami, R. Giugliani, 2009, Journal of Inherited Metabolic Disease.

Generalised uridine diphosphate galactose-4-epimerase deficiency

G. Besley, J. E. Wraith, R. Macfaul, 1999, Archives of disease in childhood.

Detection of inborn errors of metabolism in the newborn

J. E. Wraith, A. Chakrapani, M. Cleary, 2001, Archives of disease in childhood. Fetal and neonatal edition.

Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients With cholesteryl ester storage disease

G. Enns, J. Kane, M. Balwani, 2013, Hepatology.

Diagnosis and management of inborn errors of metabolism--an update.

J. E. Wraith, 1992, Archives of disease in childhood.

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

C. Eng, M. Shinawi, U. Ramaswami, 2011, Genetics in Medicine.

A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)

C. Eng, M. Shinawi, U. Ramaswami, 2006, Genetics in Medicine.

The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?

A. Broomfield, J. E. Wraith, A. Chakrapani, 2010, Journal of Inherited Metabolic Disease.

Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1.

Anneliese O. Speak, A. Speak, A. Galione, 2014, Blood.

Management of mucopolysaccharidosis type III.

J. E. Wraith, M. Cleary, M. Cleary, 1993, Archives of disease in childhood.

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations

F. Sedel, M. Patterson, M. Walterfang, 2013, Journal of Inherited Metabolic Disease.

Niemann-Pick Type C Disease - Report on Results from the Niemann-Pick Type C Patient and Healthcare Professional Survey

J. E. Wraith, H. Klünemann, F. Wijburg, 2011 .

Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial.

M. Patterson, J. E. Wraith, L. Abel, 2010, Molecular genetics and metabolism.

New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat

J. E. Wraith, J. Imrie, 2009 .

Niemann–Pick disease type C in adults

S. Harris, G. Besley, J. E. Wraith, 2002, Journal of Inherited Metabolic Disease.

Isolated splenomegaly as the presenting feature of Niemann–Pick disease type C

J. E. Wraith, J. Imrie, 2001, Archives of disease in childhood.

The natural history of Niemann–Pick disease type C in the UK

G. Besley, J. E. Wraith, L. Heptinstall, 2007, Journal of Inherited Metabolic Disease.

Galactosaemia: relationship of IQ to biochemical control and genotype

J. E. Wraith, J. Walter, M. Cleary, 1995, Journal of Inherited Metabolic Disease.

Advances in the treatment of lysosomal storage disease.

J. E. Wraith, 2001, Developmental medicine and child neurology.

Advances in the treatment of lysosomal storage disease

J. E. Wraith, 2001 .

Potential biomarkers of osteonecrosis in Gaucher disease.

A. Mehta, J. E. Wraith, D. Hughes, 2011, Blood cells, molecules & diseases.

Histidinaemia: a benign metabolic disorder.

J. E. Wraith, J. Walter, M. Cleary, 1996, Archives of disease in childhood.

Management of mucopolysaccharidosis type IH (Hurler’s syndrome) presenting in infancy with severe dilated cardiomyopathy: a single institution’s experience

J. E. Wraith, D. Bonney, K. Tylee, 2013, Journal of Inherited Metabolic Disease.

Limitations of enzyme replacement therapy: Current and future

J. E. Wraith, 2006, Journal of Inherited Metabolic Disease.

Pregnancy in a patient with mucopolysaccharidosis type IH homozygous for the W402X mutation

C. Hendriksz, J. E. Wraith, G. Moss, 2004, Journal of Inherited Metabolic Disease.

The management of lysosomal disorders

J. E. Wraith, 2004 .

Common MCAD mutation in a healthy parent of two affected siblings

J. Till, G. Besley, J. E. Wraith, 1995, Journal of Inherited Metabolic Disease.

Natural history of alpha mannosidosis a longitudinal study

P. Saftig, J. Zeman, J. Michalski, 2013, Orphanet Journal of Rare Diseases.

Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease.

J. E. Wraith, A. Tylki-Szymańska, A. Vellodi, 2008, The Journal of pediatrics.

Magnetic resonance imaging of the brain in phenylketonuria

J. Jenkins, J. E. Wraith, J. Walter, 1994, The Lancet.

Enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type II

J. E. Wraith, 2008, Acta paediatrica.

Mucopolysaccharidosis I under enzyme replacement therapy with laronidase—A mortality case with autopsy report

J. E. Wraith, C. Chuang, S.-P. Lin, 2005, Journal of Inherited Metabolic Disease.

Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study.

J. Wittes, R. Giugliani, J. E. Wraith, 2006, The Journal of pediatrics.

Enzyme replacement therapy with imiglucerase in a Taiwanese child with type 1 Gaucher disease.

J. E. Wraith, Hsiang-Yu Lin, Shuan-Pei Lin, 2006, Journal of the Chinese Medical Association : JCMA.

Endocardial fibroelastosis in mucopolysaccharidosis type VI

S. Menahem, J. E. Wraith, C. W. Chow, 1987, Clinical cardiology.

Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey

R. Giugliani, J. E. Wraith, Yasuyuki Suzuki, 2011, Genetics in Medicine.

Idursulfase for enzyme-replacement therapy in mucopolysaccharidosis II

J. E. Wraith, 2007 .

The Psychosocial Effects of Bone Marrow Transplantation in Children

J. E. Wraith, 1991 .

Complete reversal of moderate/severe brain MRI abnormalities in a patient with classical phenylketonuria

J. Jenkins, J. E. Wraith, J. Walter, 1997, Journal of Inherited Metabolic Disease.

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

B. Byrne, H. Mandel, N. Leslie, 2009, Genetics in Medicine.

and Are Younger Than 5 Years: Results of a Multinational Study of Enzyme Replacement Therapy in Patients Who Have Mucopolysaccharidosis I

J. E. Wraith, N. Guffon, M. Beck, 2013 .

Enzyme Replacement Therapy in Patients Who Have Mucopolysaccharidosis I and Are Younger Than 5 Years: Results of a Multinational Study of Recombinant Human α-l-Iduronidase (Laronidase)

J. E. Wraith, A. T. van der Ploeg, N. Guffon, 2007, Pediatrics.

Lysosomal disorders.

J. E. Wraith, 2002, Seminars in neonatology : SN.

Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II

J. E. Wraith, M. Beck, M. Beck, 2010, Journal of Inherited Metabolic Disease.

Erratum: A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) (Genetics in Medicine (August 2006) 8, 8, (465-473))

C. Eng, M. Shinawi, U. Ramaswami, 2006 .

Ornithine carbamoyltransferase deficiency

J. E. Wraith, J. Wraith, 2001, Archives of disease in childhood.

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

L. de Meirleir, J. Zeman, P. Hensman, 2011, Orphanet journal of rare diseases.

The mucopolysaccharidoses: a clinical review and guide to management.

J. E. Wraith, J. Wraith, 1995, Archives of disease in childhood.

Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann‐Pick disease type C

Anneliese O. Speak, A. Speak, G. Besra, 2012, European journal of immunology.

Management Guidelines for Mucopolysaccharidosis VI

R. Giugliani, J. E. Wraith, P. Harmatz, 2007, Pediatrics.

Optic atrophy in association with cobalamin C (cblC) disease

I. C. Lloyd, S. Beatty, N. Patton, 2000, Ophthalmic genetics.

Trifunctional protein deficiency: Three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation

G. Besley, J. E. Wraith, A. Chakrapani, 2000, Journal of Inherited Metabolic Disease.

Histidinaemia: A benign metabolic disorder

J. E. Wraith, J. Walter, M. Cleary, 1996 .

Does early use of enzyme replacement therapy alter the natural history of mucopolysaccharidosis I? Experience in three siblings.

J. E. Wraith, C. Breen, J. Mercer, 2013, Molecular genetics and metabolism.

Long-term Efficacy and Safety of Laronidase in the Treatment of Mucopolysaccharidosis I

D. Rapoport, J. E. Wraith, J. Muenzer, 2009, Pediatrics.

The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I.

Joseph Muenzer, Elsa Shapiro, Janet Thomas, 2007, Molecular genetics and metabolism.

High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry.

H. W. Webb, P. Arn, J. E. Wraith, 2012, Journal of pediatric surgery.

Mucopolysaccharidosis I: Management and Treatment Guidelines

J. E. Wraith, J. Muenzer, L. Clarke, 2009, Pediatrics.

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

L. de Meirleir, J. Zeman, O. Bodamer, 2007, European Journal of Pediatrics.

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

G. Gildengorin, R. Giugliani, J. E. Wraith, 2012, Journal of Inherited Metabolic Disease.

Enzyme replacement therapy in mucopolysaccharidosis type I: Progress and emerging difficulties

J. E. Wraith, 2001, Journal of Inherited Metabolic Disease.

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.

P. Kaplan, R. Steiner, R. Giugliani, 2008, Molecular genetics and metabolism.

Mucopolysaccharidoses and mucolipidoses.

J. E. Wraith, 2013, Handbook of clinical neurology.

Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry.

P. Arn, J. E. Wraith, J. Wraith, 2009, The Journal of pediatrics.

Initial report from the Hunter Outcome Survey

R. Giugliani, J. E. Wraith, J. Muenzer, 2008, Genetics in Medicine.

Metabolic and endocrine disorders

N. Bishop, J. E. Wraith, J. Hawdon, 2012 .

Dietary modifications in patients receiving miglustat

R. Lachmann, U. Ramaswami, J. E. Wraith, 2010, Journal of Inherited Metabolic Disease.

Strategies for the treatment of cystathionine β-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years

J. Till, J. E. Wraith, J. Walter, 1998, European Journal of Pediatrics.

An investigation of the middle and late behavioural phenotypes of Mucopolysaccharidosis Type-III

J. E. Wraith, B. Bigger, E. Cross, 2014, Journal of Neurodevelopmental Disorders.

Parental social support, coping strategies, resilience factors, stress, anxiety and depression levels in parents of children with MPS III (Sanfilippo syndrome) or children with intellectual disabilities (ID)

J. E. Wraith, B. Bigger, E. Cross, 2013, Journal of Inherited Metabolic Disease.

Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey

R. Giugliani, J. E. Wraith, N. Guffon, 2010, Orthopedic reviews.

Enzyme replacement therapy with laronidase (Aldurazyme) for treating mucopolysaccharidosis type I.

E. Jameson, J. E. Wraith, Elisabeth Jameson, 2013, The Cochrane database of systematic reviews.

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann–Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease

Smita Y. Patel, R. Xavier, S. Kugathasan, 2016, Gut.

Absence of acidosis in the initial presentation of propionic acidaemia.

J. E. Wraith, J. Walter, M. Cleary, 1995, Archives of disease in childhood. Fetal and neonatal edition.

P. Arn, J. E. Wraith, I. Bruce, 2015, The Annals of otology, rhinology, and laryngology.

Tracheostomy in mucopolysaccharidosis type II (Hunter's Syndrome).

J. E. Wraith, I. Bruce, J. Nichani, 2013, International journal of pediatric otorhinolaryngology.

Hematopoietic Stem Cell and Gene Therapy Corrects Primary Neuropathology and Behavior in Mucopolysaccharidosis IIIA Mice.

J. E. Wraith, B. Bigger, S. Howe, 2012, Molecular therapy : the journal of the American Society of Gene Therapy.

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

Zi-Fan Yu, Maurizio Scarpa, Paul Harmatz, 2010, Journal of Inherited Metabolic Disease.

Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

P. Kaplan, R. Steiner, R. Giugliani, 2010, Journal of pediatric rehabilitation medicine.

The Inherited Metabolic Diseases

J. E. Wraith, 1988, Archives of disease in childhood.

Myeloid/Microglial Driven Autologous Hematopoietic Stem Cell Gene Therapy Corrects a Neuronopathic Lysosomal Disease

J. E. Wraith, J. Mcdermott, B. Bigger, 2013, Molecular therapy : the journal of the American Society of Gene Therapy.

The craniocervical junction following successful haematopoietic stem cell transplantation for mucopolysaccharidosis type I H (Hurler syndrome)

J. E. Wraith, E. Miebach, K. Tylee, 2011, Journal of Inherited Metabolic Disease.

Bone marrow transplantation in mucopolysaccharidosis type IIIA: A comparison of an early treated patient with his untreated sibling

J. E. Wraith, P. Sivakumur, 1999, Journal of Inherited Metabolic Disease.

Juvenile Sandhoff disease—Nine new cases and a review of the literature

G. Besley, C. Hendriksz, J. E. Wraith, 2004, Journal of Inherited Metabolic Disease.

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

J. H. van der Lee, C. Hollak, J. Zeman, 2012, Orphanet Journal of Rare Diseases.

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

J. E. Wraith, J. Mercer, A. Anbu, 2006, Journal of Inherited Metabolic Disease.

Maternal phenylketonuria: successful outcome in four pregnancies treated prior to conception

D. Danks, D. Pitt, J. E. Wraith, 1988, European Journal of Pediatrics.

Screening for phenylketonuria

J. E. Wraith, 1994 .

Facial appearance in glycogen storage disease type III.

B. Kerr, J. E. Wraith, J. Walter, 2002, Clinical dysmorphology.

Non-kinetic hyperglycinaemia: prolonged survival in a patient with a mild variant.

J. E. Wraith, 1996, Journal of inherited metabolic disease.

No sensory neuropathy during pyridoxine treatment in homocystinuria.

J. E. Wraith, B. Fowler, C. Mpofu, 1991, Archives of disease in childhood.

Diagnosis and management of inborn errors of metabolism.

J. E. Wraith, 1989, Archives of disease in childhood.

Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study.

F. Sedel, W. Hwu, J. E. Wraith, 2009, Molecular genetics and metabolism.

Case Report: Second case of a successful pregnancy in maternal isovaleric acidaemia

J. E. Wraith, S. Spinty, G. Lealman, 2002, Journal of Inherited Metabolic Disease.

Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience

J. E. Wraith, A. Chakrapani, A. Vellodi, 2010, Journal of Inherited Metabolic Disease.

Stable Isotopes in Paediatric Nutritional and Metabolic Research

J. E. Wraith, 1991 .

Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change.

J. Jenkins, J. E. Wraith, J. Walter, 1995, The Journal of pediatrics.

1H NMR-Linked Urinary Metabolic Profiling of Niemann-Pick Class C1 (NPC1) Disease: Identification of Potential New Biomarkers using Correlated Component Regression (CCR) and Genetic Algorithm (GA) Analysis Strategies

R. M. Luque-Baena, D. Elizondo, P. Clayton, 2014 .

Home treatment with Elaprase® and Naglazyme® is safe in patients with mucopolysaccharidoses types II and VI, respectively

J. E. Wraith, Jane Roberts, S. Jones, 2008, Journal of Inherited Metabolic Disease.

Clinical aspects and diagnosis

J. E. Wraith, 2004 .

Developmental outcome post allogenic bone marrow transplant for Niemann Pick Type C2.

J. E. Wraith, J. Imrie, E. O'Mahony, 2013, Molecular genetics and metabolism.

Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study.

F. Sedel, W. Hwu, M. Patterson, 2009, Molecular genetics and metabolism.

mucopolysaccharidosis

J. E. Wraith, B. Bigger, E. Cross, 2022, CABI Compendium.

Management of mucopolysaccharidosis type III.

J. E. Wraith, M. Cleary, 1993 .

Clinical Aspects and Clinical Diagnosis

J. E. Wraith, Michael J. Beck, 2012 .

Investigation of developmental delay.

J. E. Wraith, R. Newton, 1995, Archives of disease in childhood.

PERSONAL PRACTICE Investigation of developmental delay

J. E. Wraith, R. Newton, 2006 .

Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.

J. Tolar, K. Rudser, J. E. Wraith, 2016, JIMD reports.

New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat

J. E. Wraith, J. Imrie, 2009, Therapeutics and clinical risk management.

Geleophysic dysplasia.

D. Danks, A. Bankier, J. E. Wraith, 2020, American journal of medical genetics.

mucopolysaccharidosis

J. E. Wraith, B. Bigger, E. Cross, 2022, CABI Compendium.

Mucopolysaccharidoses and mucolipidoses.

J. E. Wraith, 2013, Handbook of clinical neurology.

Hearing loss due to mannosidosis and otitis media with effusion. A case report and review of audiological assessments in children with otitis media with effusion

J. E. Wraith, N. Roland, A. Ahmmed, 2003, The Journal of Laryngology & Otology.

J. E. Wraith, E. Cross, L. Mahon, 2013, Journal of Inherited Metabolic Disease.

New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat

J. E. Wraith, J. Imrie, 2009, Therapeutics and clinical risk management.