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A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study

Muscle & nerve, 2018-04, Vol.57 (4), p.550-560

2018

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The humanistic burden of Pompe disease: are there still unmet needs? A systematic review

BMC neurology, 2017-11, Vol.17 (1), p.202-202, Article 202

2017

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SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy

Genes, 2022-09, Vol.13 (9), p.1655

2022

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Gene Therapy: Novel Approaches to Targeting Monogenic Epilepsies

Frontiers in neurology, 2022-06, Vol.13, p.805007-805007

2022

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Evaluation of Neuropsychiatric Function in Phenylketonuria: Psychometric Properties of the ADHD Rating Scale-IV and Adult ADHD Self-Report Scale Inattention Subscale in Phenylketonuria

Value in health, 2015-06, Vol.18 (4), p.404-412

2015

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Immune Responses and Immunosuppressive Strategies for Adeno-Associated Virus-Based Gene Therapy for Treatment of Central Nervous System Disorders: Current Knowledge and Approaches

Human gene therapy, 2022-12, Vol.33 (23-24), p.1228

2022

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Content Validity of the ADHD Rating Scale (ADHD RS-IV) and Adult ADHD Self-Report Scale (ASRS) in Phenylketonuria

Journal of inborn errors of metabolism and screening, 2016, Vol.4, p.232640981663931

2016

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Connect: Designing a first-in-human gene replacement therapy clinical trial for CLN1

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S73-S73

2022

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Biodistribution of Adeno-Associated Virus Gene Therapy Following Cerebrospinal Fluid-Directed Administration

Human gene therapy, 2023-02, Vol.34 (3-4), p.94

2023

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Systematic Review and Meta-Analysis of Neuropsychiatric Symptoms and Executive Functioning in Adults With Phenylketonuria

Developmental neuropsychology, 2016-05, Vol.41 (4), p.245-260

2016

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Disease burden of Crigler–Najjar syndrome: Systematic review and future perspectives

Journal of gastroenterology and hepatology, 2020-04, Vol.35 (4), p.530-543

2020

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OP018: ASPIRO gene therapy trial in X-Linked Myotubular Myopathy (XLMTM): Update on preliminary efficacy and safety findings

Genetics in medicine, 2022-03, Vol.24 (3), p.S350-S350

2022

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Pompe Disease Diagnosis, Treatment, and Outcomes in Italy: Pompe Disease Registry Data from Italy Compared with the Rest-of-World

Clinical therapeutics, 2011-06, Vol.33 (6), p.S35-S35

2011

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Clinical program to evaluate safety, preliminary efficacy, and dose selection of AAV8 gene therapy in patients with infantile and late onset Pompe disease (IOPD and LOPD)

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.S123-S123

2019

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Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis

Archives of disease in childhood, 2020-04, Vol.105 (4), p.332

2020

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Pompe disease: Design, methodology, and early findings from the Pompe Registry

Molecular genetics and metabolism, 2011-05, Vol.103 (1), p.1-11

2011

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Switching from Neurostimulant Therapy to Atomoxetine in Children and Adolescents with Attention-Deficit Hyperactivity Disorder: Clinical Approaches and Review of Current Available Evidence

Paediatric drugs, 2008, Vol.10 (1), p.39-47

2008

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Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons

Journal of neuropathology and experimental neurology, 2016-02, Vol.75 (2), p.102-110

2016

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Baseline values from the electrocardiograms of children and adolescents with ADHD

Child and adolescent psychiatry and mental health, 2007-09, Vol.1 (1), p.11-11, Article 11

2007

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Pre-clinical safety and efficacy findings of AT845, a novel gene replacement therapy for Pompe disease targeting skeletal muscle and heart

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S106-S106

2020

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Continued analysis of GAA-/- mice treated with novel hybrid promoter rAAV vectors expressing acid alpha-glucosidase

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.S70-S70

2019

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A Systematic Review of the Health Economics of Pompe Disease

PharmacoEconomics - open, 2019-12, Vol.3 (4), p.479-493

2019

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A multi-centre, randomised, open-label study of atomoxetine compared with standard current therapy in UK children and adolescents with attention-deficit/hyperactivity disorder (ADHD)

Current medical research and opinion, 2007-02, Vol.23 (2), p.379-394

2007

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Disease Registries and Outcomes Research in Children: Focus on Lysosomal Storage Disorders

Paediatric drugs, 2011-01, Vol.13 (1), p.33-47

2011

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Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy

Genetics in medicine, 2015-05, Vol.17 (5), p.365-373

2015

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A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study

The humanistic burden of Pompe disease: are there still unmet needs? A systematic review

SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy

Gene Therapy: Novel Approaches to Targeting Monogenic Epilepsies

Evaluation of Neuropsychiatric Function in Phenylketonuria: Psychometric Properties of the ADHD Rating Scale-IV and Adult ADHD Self-Report Scale Inattention Subscale in Phenylketonuria

Immune Responses and Immunosuppressive Strategies for Adeno-Associated Virus-Based Gene Therapy for Treatment of Central Nervous System Disorders: Current Knowledge and Approaches

Content Validity of the ADHD Rating Scale (ADHD RS-IV) and Adult ADHD Self-Report Scale (ASRS) in Phenylketonuria

Connect: Designing a first-in-human gene replacement therapy clinical trial for CLN1

Biodistribution of Adeno-Associated Virus Gene Therapy Following Cerebrospinal Fluid-Directed Administration

Systematic Review and Meta-Analysis of Neuropsychiatric Symptoms and Executive Functioning in Adults With Phenylketonuria

Disease burden of Crigler–Najjar syndrome: Systematic review and future perspectives

OP018: ASPIRO gene therapy trial in X-Linked Myotubular Myopathy (XLMTM): Update on preliminary efficacy and safety findings

Pompe Disease Diagnosis, Treatment, and Outcomes in Italy: Pompe Disease Registry Data from Italy Compared with the Rest-of-World

Clinical program to evaluate safety, preliminary efficacy, and dose selection of AAV8 gene therapy in patients with infantile and late onset Pompe disease (IOPD and LOPD)

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis

Pompe disease: Design, methodology, and early findings from the Pompe Registry

Switching from Neurostimulant Therapy to Atomoxetine in Children and Adolescents with Attention-Deficit Hyperactivity Disorder: Clinical Approaches and Review of Current Available Evidence

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons

Baseline values from the electrocardiograms of children and adolescents with ADHD

Pre-clinical safety and efficacy findings of AT845, a novel gene replacement therapy for Pompe disease targeting skeletal muscle and heart

Continued analysis of GAA-/- mice treated with novel hybrid promoter rAAV vectors expressing acid alpha-glucosidase

A Systematic Review of the Health Economics of Pompe Disease

A multi-centre, randomised, open-label study of atomoxetine compared with standard current therapy in UK children and adolescents with attention-deficit/hyperactivity disorder (ADHD)

Disease Registries and Outcomes Research in Children: Focus on Lysosomal Storage Disorders

Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy

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