Cargando…

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

PURPOSE: To characterize clinical characteristics and genotypes of patients in the ADVANCE study of 4000 L-scale alglucosidase alfa (NCT01526785), the largest prospective United States Pompe disease cohort to date. METHODS: Patients aged ≥1 year with confirmed Pompe disease previously receiving 160 ...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kishnani, Priya S., Gibson, James B., Gambello, Michael J., Hillman, Richard, Stockton, David W., Kronn, David, Leslie, Nancy D., Pena, Loren D. M., Tanpaiboon, Pranoot, Day, John W., Wang, Raymond Y., Goldstein, Jennifer L., An Haack, Kristina, Sparks, Susan E., Zhao, Yang, Hahn, Si Houn
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group US 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8076035/ https://www.ncbi.nlm.nih.gov/pubmed/31086307 http://dx.doi.org/10.1038/s41436-019-0527-9

Ejemplares similares

Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort
por: Duong, Tina, et al.
Publicado: (2022)

Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via Newborn Screening: The benefits of early treatment with enzyme replacement therapy and immune tolerance induction
por: Li, Cindy, et al.
Publicado: (2021)

Immune tolerance strategies in siblings with infantile Pompe disease — Advantages for a preemptive approach to high-sustained antibody titers
por: Stenger, Elizabeth O., et al.
Publicado: (2015)

An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease
por: Kazi, Zoheb B., et al.
Publicado: (2018)

Measurement Properties of 2 Novel PROs, the Pompe Disease Symptom Scale and Pompe Disease Impact Scale, in the COMET Study
por: Dimachkie, Mazen M., et al.
Publicado: (2023)

Role of elosulfase alfa in mucopolysaccharidosis IVA
por: Regier, Debra S, et al.
Publicado: (2016)

The Pompe Registry: tracking Pompe disease symptoms in a broad patient population
por: Byrne, B, et al.
Publicado: (2008)

Pompe disease- experience from South India
por: Lingappa, Lokesh, et al.
Publicado: (2013)

Clinical laboratory experience of blood CRIM testing in infantile Pompe disease
por: Bali, Deeksha S., et al.
Publicado: (2015)

Long term outcome and clinical experience on immune tolerance induction therapies in infantile Pompe disease
por: Austin, Stephanie, et al.
Publicado: (2013)

Behavioral, social and school functioning in children with Pompe disease
por: Korlimarla, Aditi, et al.
Publicado: (2020)

Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives
por: El Haddad, Léa, et al.
Publicado: (2023)

Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease
por: Dimachkie, Mazen M., et al.
Publicado: (2022)

Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening
por: Jackson, David G., et al.
Publicado: (2023)

Pregnancy Outcomes in Late Onset Pompe Disease
por: Goker-Alpan, Ozlem, et al.
Publicado: (2020)

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry
por: Reuser, Arnold J. J., et al.
Publicado: (2019)

Adenotonsillectomy should be avoided whenever possible in infantile-onset Pompe disease
por: Jones, Harrison N., et al.
Publicado: (2020)

Assessment of Dysphonia in Children with Pompe Disease Using Auditory-Perceptual and Acoustic/Physiologic Methods
por: Crisp, Kelly D., et al.
Publicado: (2021)

New Insights into Gastrointestinal Involvement in Late-Onset Pompe Disease: Lessons Learned from Bench and Bedside
por: Korlimarla, Aditi, et al.
Publicado: (2021)

Use of the patient-reported outcomes measurement information system (PROMIS®) to assess late-onset Pompe disease severity
por: Harfouche, Melodi, et al.
Publicado: (2020)

Pompe disease diagnosis and management guideline
por: Kishnani, Priya S., et al.
Publicado: (2006)

Small-Fiber Neuropathy in Pompe Disease: First Reported Cases and Prospective Screening of a Clinic Cohort
por: Hobson-Webb, Lisa D., et al.
Publicado: (2015)

Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease
por: De Groot, Anne S., et al.
Publicado: (2021)

Dysregulation of Multiple Facets of Glycogen Metabolism in a Murine Model of Pompe Disease
por: Taylor, Kristin M., et al.
Publicado: (2013)

Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start
por: Stockton, David W., et al.
Publicado: (2020)

Benefits of Prophylactic Short-Course Immune Tolerance Induction in Patients With Infantile Pompe Disease: Demonstration of Long-Term Safety and Efficacy in an Expanded Cohort
por: Desai, Ankit K., et al.
Publicado: (2020)

Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease
por: Wang, Jason, et al.
Publicado: (2021)

CRIM-negative infantile Pompe disease: Characterization of immune responses in patients treated with ERT monotherapy
por: Berrier, Kathryn L., et al.
Publicado: (2015)

Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy
por: Desai, Ankit K., et al.
Publicado: (2019)

Do the data really support ordering fragile X testing as a first-tier test without clinical features?
por: Weinstein, Veronique, et al.
Publicado: (2017)

Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening
por: Goomber, Shelly, et al.
Publicado: (2022)

Quantitative muscle ultrasound and electrical impedance myography in late onset Pompe disease: A pilot study of reliability, longitudinal change and correlation with function
por: Hobson-Webb, Lisa D., et al.
Publicado: (2021)

Development of a disease severity scoring system for patients with Pompe disease
por: Giannini, E, et al.
Publicado: (2008)

Qualitative interviews to improve patient-reported outcome measures in late-onset Pompe disease: the patient perspective
por: Hamed, Alaa, et al.
Publicado: (2021)

A Race Against Time—Changing the Natural History of CRIM Negative Infantile Pompe Disease
por: Gupta, Punita, et al.
Publicado: (2020)

Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy
por: Prater, Sean N, et al.
Publicado: (2013)

The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients
por: Feeney, Erin J, et al.
Publicado: (2014)

Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid α-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease
por: Lim, Jeong-A, et al.
Publicado: (2019)

Quantitative whole‐body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle disease
por: Fernandes, Samuela A., et al.
Publicado: (2020)

A pilot study on using rapamycin-carrying synthetic vaccine particles (SVP) in conjunction with enzyme replacement therapy to induce immune tolerance in Pompe disease
por: Lim, Han-Hyuk, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_du1v8pgetsdnaegfno9fq4v862