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Childhood Pompe disease: clinical spectrum and genotype in 31 patients

Orphanet journal of rare diseases, 2016-05, Vol.11 (1), p.65-65, Article 65

2016

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Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study

Journal of inherited metabolic disease, 2014-11, Vol.37 (6), p.945-952

2014

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Sustained therapeutic effects of oral miglustat (Zavesca, N‐butyldeoxynojirimycin, OGT 918) in type I Gaucher disease

Journal of inherited metabolic disease, 2004-11, Vol.27 (6), p.757-766

2004

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Twin pairs showing discordance of phenotype in adult Gaucher's disease

QJM : An International Journal of Medicine, 2004-04, Vol.97 (4), p.199-204

2004

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Costs and outcomes over 36 years of patients with phenylketonuria who do and do not remain on a phenylalanine-restricted diet

Journal of intellectual disability research, 2013-06, Vol.57 (6), p.567-579

2013

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Depression in adults with Fabry disease: A common and under-diagnosed problem

Journal of inherited metabolic disease, 2007-11, Vol.30 (6), p.943-951

2007

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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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A practical approach to diagnosing adult onset leukodystrophies

Journal of neurology, neurosurgery and psychiatry, 2014-07, Vol.85 (7), p.770-781

2014

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White matter integrity correlates with cognition and disease severity in Fabry disease

Brain (London, England : 1878), 2020-12, Vol.143 (11), p.3331-3342

2020

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Long-term needs of adult patients with organic acidaemias: outcome and prognostic factors

Journal of inherited metabolic disease, 2009-08, Vol.32 (4), p.523-533

2009

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Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy

Journal of inherited metabolic disease, 2001-04, Vol.24 (2), p.275-290

2001

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Substrate reduction therapy for glycosphingolipid storage disorders

Expert opinion on investigational drugs, 2001-03, Vol.10 (3), p.455-466

2001

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Utilization of the herpes simplex virus type 1 latency-associated regulatory region to drive stable reporter gene expression in the nervous system

Journal of Virology, 1997-04, Vol.71 (4), p.3197-3207

1997

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Herpes Simplex Virus Type 1 Promoter Activity during Latency Establishment, Maintenance, and Reactivation in Primary Dorsal Root Neurons In Vitro

Journal of Virology, 2001-04, Vol.75 (8), p.3885-3895

2001

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Dietary modifications in patients receiving miglustat

Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.379-383

2010

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Latency associated promoter transgene expression in the central nervous system after stereotaxic delivery of replication-defective HSV-1-based vectors

Gene therapy, 2001-07, Vol.8 (14), p.1057-1071

2001

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Recurrent goodpasture's disease

American journal of kidney diseases, 1996-04, Vol.27 (4), p.573-578

1996

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Posterior circulation strokes without systemic involvement as the presenting feature of Fabry disease

Journal of neurology, neurosurgery and psychiatry, 2009-12, Vol.80 (12), p.1414-1416

2009

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A murine RNA polymerase I promoter inserted into the herpes simplex virus type 1 genome is functional during lytic, but not latent, infection

Journal of general virology, 1996-10, Vol.77 (10), p.2575-2582

1996

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A novel HEXB mutation and its structural effects in juvenile Sandhoff disease

Molecular genetics and metabolism, 2008-12, Vol.95 (4), p.236-238

2008

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Long-Term Transgene Expression in Mice Infected with a Herpes Simplex Virus Type 1 Mutant Severely Impaired for Immediate-Early Gene Expression

Journal of Virology, 2000-01, Vol.74 (2), p.956-964

2000

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Expression from the herpes simplex virus type 1 latency-associated promoter in the murine central nervous system

Journal of general virology, 2000-03, Vol.81 (3), p.649-662

2000

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An analysis of herpes simplex virus gene expression during latency establishment and reactivation

Journal of general virology, 1999-05, Vol.80 (5), p.1271-1282

1999

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International recommendations for the diagnosis and management of patients with adrenoleukodystrophy: A consensus-based approach

Yearbook of Paediatric Endocrinology, 2023-09

2023

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Childhood Pompe disease: clinical spectrum and genotype in 31 patients

Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study

Sustained therapeutic effects of oral miglustat (Zavesca, N‐butyldeoxynojirimycin, OGT 918) in type I Gaucher disease

Twin pairs showing discordance of phenotype in adult Gaucher's disease

Costs and outcomes over 36 years of patients with phenylketonuria who do and do not remain on a phenylalanine-restricted diet

Depression in adults with Fabry disease: A common and under-diagnosed problem

In-depth phenotyping for clinical stratification of Gaucher disease

A practical approach to diagnosing adult onset leukodystrophies

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience

White matter integrity correlates with cognition and disease severity in Fabry disease

Long-term needs of adult patients with organic acidaemias: outcome and prognostic factors

Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy

Substrate reduction therapy for glycosphingolipid storage disorders

Utilization of the herpes simplex virus type 1 latency-associated regulatory region to drive stable reporter gene expression in the nervous system

Herpes Simplex Virus Type 1 Promoter Activity during Latency Establishment, Maintenance, and Reactivation in Primary Dorsal Root Neurons In Vitro

Dietary modifications in patients receiving miglustat

Latency associated promoter transgene expression in the central nervous system after stereotaxic delivery of replication-defective HSV-1-based vectors

Recurrent goodpasture's disease

Posterior circulation strokes without systemic involvement as the presenting feature of Fabry disease

A murine RNA polymerase I promoter inserted into the herpes simplex virus type 1 genome is functional during lytic, but not latent, infection

A novel HEXB mutation and its structural effects in juvenile Sandhoff disease

Long-Term Transgene Expression in Mice Infected with a Herpes Simplex Virus Type 1 Mutant Severely Impaired for Immediate-Early Gene Expression

Expression from the herpes simplex virus type 1 latency-associated promoter in the murine central nervous system

An analysis of herpes simplex virus gene expression during latency establishment and reactivation

International recommendations for the diagnosis and management of patients with adrenoleukodystrophy: A consensus-based approach

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