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The lysosomal disease caused by mutant VPS33A

Human molecular genetics, 2019-08, Vol.28 (15), p.2514-2530

2019

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A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I

Journal of veterinary internal medicine, 2020-09, Vol.34 (5), p.1813-1824

2020

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Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases

Journal of clinical medicine, 2024-03, Vol.13 (5), p.1465

2024

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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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The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations

Human mutation, 2019-07, Vol.40 (7), p.842-864, Article humu.23748

2019

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Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A

Human mutation, 2022-12, Vol.43 (12), p.2265-2278

2022

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Biomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.129-137

2015

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Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome

Orphanet journal of rare diseases, 2015-04, Vol.10 (1), p.42-42, Article 42

2015

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Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations

Molecular genetics and metabolism reports, 2023-12, Vol.37, p.101009, Article 101009

2023

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Validation of an assay to measure iduronate-2-sulfatase activity in cerebrospinal fluid to assess the efficacy of a hematopoietic stem cell (HSC) gene therapy

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107106, Article 107106

2023

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How many sulphatase deficiencies become multiple? The diagnostic challenges of multiple sulphatase deficiency

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107796, Article 107796

2024

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Graft rejection and spontaneous recovery in mucopolysaccharidosis type I post-HSCT

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S32-S33

2022

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Biochemical Engraftment and Clinical Outcomes Following Ex-Vivo Autologous Stem Cell Gene Therapy for Mucopolysaccharidosis Type IIIA

Blood, 2022-11, Vol.140 (Supplement 1), p.1897-1898

2022

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Long-term outcomes in adult patients affected with fucosidosis: Psychosis as a new complication

Molecular genetics and metabolism, 2021-02, Vol.132 (2), p.S103-S103

2021

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Ex-Vivo Autologous Stem Cell Gene Therapy Clinical Trial for Mucopolysaccharidosis Type IIIA: Trial in Progress - NCT04201405

Blood, 2020-11, Vol.136 (Supplement 1), p.15-16

2020

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How many sulphatase deficiencies become multiple: An unusual presentation of multiple sulphatase deficiency

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S32-S32

2018

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Ex-vivo autologous stem cell gene therapy clinical trial for mucopolysaccharidosis type IIIA: Update on phase I/II clinical trial

Molecular genetics and metabolism, 2021-02, Vol.132 (2), p.S56-S57

2021

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Screening for Fabry disease using dried blood spots in clinically relevant patient populations over six years

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S115-S116

2016

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Induction of immune tolerance to enzyme replacement therapy in mucopolysaccharidosis type I

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S86-S86

2018

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High dose genistein aglycone in Sanfilippo syndrome: Results of a randomised, double-blinded, placebo controlled clinical trial

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S51-S52

2018

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Prediction of CRIM status in Pompe disease using cultured chorionic villi

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S32-S32

2015

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Cervical spine surgery in MPS IVA: a single center experience

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S145-S145

2017

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Abnormal filipin staining and phenotypic overlap between acid sphingomyelinase deficiency and Niemann-Pick C disease

Molecular genetics and metabolism, 2014-02, Vol.111 (2), p.S32-S32

2014

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Glycosaminoglycans (GAG) differentiation in patients with various types of mucopolysaccharidoses (MPS)

Molecular genetics and metabolism, 2014-02, Vol.111 (2), p.S106-S106

2014

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Successful implementation of plasma oxysterol for screening of Niemann-Pick disease type C in Manchester, UK

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S35-S35

2016

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The lysosomal disease caused by mutant VPS33A

A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I

Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases

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

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations

Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A

Biomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy

Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome

Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations

Validation of an assay to measure iduronate-2-sulfatase activity in cerebrospinal fluid to assess the efficacy of a hematopoietic stem cell (HSC) gene therapy

How many sulphatase deficiencies become multiple? The diagnostic challenges of multiple sulphatase deficiency

Graft rejection and spontaneous recovery in mucopolysaccharidosis type I post-HSCT

Biochemical Engraftment and Clinical Outcomes Following Ex-Vivo Autologous Stem Cell Gene Therapy for Mucopolysaccharidosis Type IIIA

Long-term outcomes in adult patients affected with fucosidosis: Psychosis as a new complication

Ex-Vivo Autologous Stem Cell Gene Therapy Clinical Trial for Mucopolysaccharidosis Type IIIA: Trial in Progress - NCT04201405

How many sulphatase deficiencies become multiple: An unusual presentation of multiple sulphatase deficiency

Ex-vivo autologous stem cell gene therapy clinical trial for mucopolysaccharidosis type IIIA: Update on phase I/II clinical trial

Screening for Fabry disease using dried blood spots in clinically relevant patient populations over six years

Induction of immune tolerance to enzyme replacement therapy in mucopolysaccharidosis type I

High dose genistein aglycone in Sanfilippo syndrome: Results of a randomised, double-blinded, placebo controlled clinical trial

Prediction of CRIM status in Pompe disease using cultured chorionic villi

Cervical spine surgery in MPS IVA: a single center experience

Abnormal filipin staining and phenotypic overlap between acid sphingomyelinase deficiency and Niemann-Pick C disease

Glycosaminoglycans (GAG) differentiation in patients with various types of mucopolysaccharidoses (MPS)

Successful implementation of plasma oxysterol for screening of Niemann-Pick disease type C in Manchester, UK

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