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Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients

Orphanet journal of rare diseases, 2021-12, Vol.16 (1), p.500-500, Article 500

2021

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Mpox Diagnosis, Behavioral Risk Modification, and Vaccination Uptake among Gay, Bisexual, and Other Men Who Have Sex with Men, United Kingdom, 2022

Emerging infectious diseases, 2024-05, Vol.30 (5), p.916-925

2024

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Phase I/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes

Human gene therapy, 2013-06, Vol.24 (6), p.630-640

2013

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Effective Contraception Use by Usual Source of Care: An Opportunity for Prevention

Women's health issues, 2018-07, Vol.28 (4), p.306-312

2018

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Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

Neuromuscular disorders : NMD, 2015-04, Vol.25 (4), p.321-332

2015

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The OMACS-PIL study: a randomised controlled trial within the OMACS observational study

Trials, 2019-12, Vol.20 (1), p.772-772, Article 772

2019

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Evidence-informed person-centered healthcare part I: Do 'cognitive biases plus' at organizational levels influence quality of evidence?

Journal of evaluation in clinical practice, 2014-12, Vol.20 (6), p.734-747

2014

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Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis

Molecular genetics and metabolism reports, 2020-06, Vol.23, p.100586-100586, Article 100586

2020

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Clinical Outcome Assessments: Use of Normative Data in a Pediatric Rare Disease

Value in health, 2018-05, Vol.21 (5), p.508-514

2018

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Reliability and Validity of the 6‐Minute Walk Test in Hypophosphatasia

JBMR plus, 2019-06, Vol.3 (6), p.e10131-n/a

2019

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Gratification, Masturbation or Paroxysmal Hyperkinetic Motor Syndrome of Infancy?

Canadian journal of neurological sciences, 2013-05, Vol.40 (3), p.278-279

2013

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Photography and Causation: Responding to Scruton's Scepticism

The British journal of aesthetics, 2009-10, Vol.49 (4), p.327-340

Phillips, Dawn M.

2009

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Automatism, Causality and Realism: Foundational Problems in the Philosophy of Photography

Philosophy compass, 2009-01, Vol.4 (1), p.1-21

2009

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Losing weight online with POWeR: a randomised controlled trial of a web-based behavioural intervention in a community setting

The Lancet (British edition), 2013-11, Vol.382 (S3), p.S62-S62

2013

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Characterizing visual function in children with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2): The caregiver perspective

Molecular genetics and metabolism, 2021-02, Vol.132 (2), p.S86-S86

2021

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Clinical and numerical presentation of neurocognitive assessments for MPS II patients using the Bayley Scales of Infant Development- version 3 (BSID-III)

Molecular genetics and metabolism, 2021-02, Vol.132 (2), p.S25-S25

2021

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Characterizing expressive language skills in children with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2): The caregiver perspective

Molecular genetics and metabolism, 2021-02, Vol.132 (2), p.S86-S86

2021

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Quantifying and modelling disease progression trajectory for natural history of MPS II

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107056, Article 107056

2023

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Priorities & Challenges of Brain Injury Survivors & Their Caregivers as They Adapt to Using a New Wheelchair

The American journal of occupational therapy, 2023-07, Vol.77 (Supplement_2), p.7711505117-7711505117p1

2023

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A Novel Polyamine Analog Inhibits Growth and Induces Apoptosis in Human Breast Cancer Cells

Clinical cancer research, 2003-07, Vol.9 (7), p.2769-2777

2003

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Resist! We Are the Ones We've Been Waiting For

Race, poverty & the environment, 2017-01, Vol.21 (2), p.72-73

Phillips, Dawn

2017

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Audiology assessment of participants in CAMPSIITE™, a phase I/II/III study of RGX-121 in neuronopathic MPS II

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107776, Article 107776

2024

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Daily living skills on the Vineland Adaptive Behavioral Scale version 2 (VABS-II) in neuronopathic mucopolysaccharidosis type II (MPS II)

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107268, Article 107268

2023

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Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis

Journal of inborn errors of metabolism and screening, 2018-09, Vol.6

2018

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Functional outcome measures in pediatric therapeutic intervention: Application and issues in a rare disease

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S95-S95

2016

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Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients

Mpox Diagnosis, Behavioral Risk Modification, and Vaccination Uptake among Gay, Bisexual, and Other Men Who Have Sex with Men, United Kingdom, 2022

Phase I/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes

Effective Contraception Use by Usual Source of Care: An Opportunity for Prevention

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

The OMACS-PIL study: a randomised controlled trial within the OMACS observational study

Evidence-informed person-centered healthcare part I: Do 'cognitive biases plus' at organizational levels influence quality of evidence?

Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis

Clinical Outcome Assessments: Use of Normative Data in a Pediatric Rare Disease

Reliability and Validity of the 6‐Minute Walk Test in Hypophosphatasia

Gratification, Masturbation or Paroxysmal Hyperkinetic Motor Syndrome of Infancy?

Photography and Causation: Responding to Scruton's Scepticism

Automatism, Causality and Realism: Foundational Problems in the Philosophy of Photography

Losing weight online with POWeR: a randomised controlled trial of a web-based behavioural intervention in a community setting

Characterizing visual function in children with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2): The caregiver perspective

Clinical and numerical presentation of neurocognitive assessments for MPS II patients using the Bayley Scales of Infant Development- version 3 (BSID-III)

Characterizing expressive language skills in children with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2): The caregiver perspective

Quantifying and modelling disease progression trajectory for natural history of MPS II

Priorities & Challenges of Brain Injury Survivors & Their Caregivers as They Adapt to Using a New Wheelchair

A Novel Polyamine Analog Inhibits Growth and Induces Apoptosis in Human Breast Cancer Cells

Resist! We Are the Ones We've Been Waiting For

Audiology assessment of participants in CAMPSIITE™, a phase I/II/III study of RGX-121 in neuronopathic MPS II

Daily living skills on the Vineland Adaptive Behavioral Scale version 2 (VABS-II) in neuronopathic mucopolysaccharidosis type II (MPS II)

Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis

Functional outcome measures in pediatric therapeutic intervention: Application and issues in a rare disease

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