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Grey on Grey: At the Threshold of Philosophy and Art

1, 2023

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The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders

Health technology assessment (Winchester, England), 2012, Vol.16 (39), p.1-543

2012

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Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy

Journal of inherited metabolic disease, 2016-03, Vol.39 (2), p.261-271

2016

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In-depth phenotyping for clinical stratification of Gaucher disease

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.431-431, Article 431

2021

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Management of neuronopathic Gaucher disease: Revised recommendations

Journal of inherited metabolic disease, 2009-10, Vol.32 (5), p.660-664

2009

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Is globotriaosylceramide a useful biomarker in Fabry disease?

Acta pædiatrica (Oslo), 2005-03, Vol.94, p.51-54

2005

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Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations

Clinical genetics, 2010-09, Vol.78 (3), p.236-246

2010

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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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Lysosomal storage disorders

British journal of haematology, 2005-02, Vol.128 (4), p.413-431

Vellodi, Ashok

2005

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The molecular basis of lysosomal storage diseases and their treatment

Biochemical Society transactions, 2000-02, Vol.28 (2), p.150

2000

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

JIMD Reports, Volume 29, 2016-01, Vol.29, p.95-102

2016

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Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease

Journal of inherited metabolic disease, 2005-01, Vol.28 (1), p.35-48

2005

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Autosomal recessive osteopetrosis: diagnosis, management, and outcome

Archives of disease in childhood, 2000-11, Vol.83 (5), p.449-452

2000

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Outcome of type III Gaucher disease on enzyme replacement therapy: Review of 55 cases

Journal of inherited metabolic disease, 2007-11, Vol.30 (6), p.935-942

2007

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P92 – 2951: Lack of objective measurements to monitor disease progression and treatment response in Niemann-Pick type C disease

European journal of paediatric neurology, 2015-05, Vol.19, p.S120-S120

2015

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Changes in gait pattern as assessed by the GAITRite™ walkway system in MPS II patients undergoing enzyme replacement therapy

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.127-135

2009

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severity scoring tool to assess the neurological features of neuronopathic Gaucher disease

Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.768-782

2007

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Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease

Skeletal radiology, 2008-03, Vol.37 (3), p.185-188

2008

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Long‐term follow‐up following bone marrow transplantation for Hunter disease

Journal of inherited metabolic disease, 1999-06, Vol.22 (5), p.638-648

1999

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Mutational analysis of 85 mucopolysaccharidosis type I families : frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations

Human genetics, 2001-11, Vol.109 (5), p.503-511

2001

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Type II Gaucher disease manifesting as haemophagocytic lymphohistiocytosis

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.107-110

2009

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Management of neuronopathic Gaucher disease: A European consensus

Journal of inherited metabolic disease, 2001-06, Vol.24 (3), p.319-327

2001

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Bone marrow transplantation for Maroteaux–Lamy syndrome (MPS VI): Long‐term follow‐up

Journal of inherited metabolic disease, 1999-02, Vol.22 (1), p.50-62

1999

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Evaluation of three biochemical markers in the monitoring of Gaucher disease

Journal of inherited metabolic disease, 2005-08, Vol.28 (4), p.585-592

2005

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Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease

Orphanet journal of rare diseases, 2022-06, Vol.17 (1), p.1-234, Article 234

2022

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Grey on Grey: At the Threshold of Philosophy and Art

The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders

Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy

In-depth phenotyping for clinical stratification of Gaucher disease

Management of neuronopathic Gaucher disease: Revised recommendations

Is globotriaosylceramide a useful biomarker in Fabry disease?

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations

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

Lysosomal storage disorders

The molecular basis of lysosomal storage diseases and their treatment

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

Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease

Autosomal recessive osteopetrosis: diagnosis, management, and outcome

Outcome of type III Gaucher disease on enzyme replacement therapy: Review of 55 cases

P92 – 2951: Lack of objective measurements to monitor disease progression and treatment response in Niemann-Pick type C disease

Changes in gait pattern as assessed by the GAITRite™ walkway system in MPS II patients undergoing enzyme replacement therapy

severity scoring tool to assess the neurological features of neuronopathic Gaucher disease

Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease

Long‐term follow‐up following bone marrow transplantation for Hunter disease

Mutational analysis of 85 mucopolysaccharidosis type I families : frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations

Type II Gaucher disease manifesting as haemophagocytic lymphohistiocytosis

Management of neuronopathic Gaucher disease: A European consensus

Bone marrow transplantation for Maroteaux–Lamy syndrome (MPS VI): Long‐term follow‐up

Evaluation of three biochemical markers in the monitoring of Gaucher disease

Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease

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