Cargando…

Pompe disease- experience from South India

Detalles Bibliográficos
Autores principales:	Lingappa, Lokesh, Devi, Radha Rama, Dherai, Alpa, Rehder, Catherene, Kishnani, Priya
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Poster Presentation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3667006/ http://dx.doi.org/10.1186/1471-2474-14-S2-P23

Ejemplares similares

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

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

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

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

Spectrum of Pompe disease in childhood – The Toronto experience
por: Raiman, J, et al.
Publicado: (2013)

Pompe disease: the role of MRI
por: Fernández, C Pérez, et al.
Publicado: (2013)

Enzyme replacement therapy and fatigue in adults with Pompe disease
por: Güngör, Deniz, et al.
Publicado: (2013)

Description of the first two cases of Pompe disease in Bulgaria
por: Tournev, I, et al.
Publicado: (2013)

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)

Cytokines in treated and untreated Pompe patients
por: Karabul, N, et al.
Publicado: (2013)

Impact of enzyme replacement therapy on survival in adults with Pompe disease
por: Güngör, Deniz, et al.
Publicado: (2013)

Walking delay as leading symptom in late-onset Pompe disease
por: Gökce, S, et al.
Publicado: (2013)

Three years experience with dried blood spot α-glucosidase screening for Pompe disease in British Columbia, Canada
por: Horvath, Gabriella, et al.
Publicado: (2013)

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

Pompe practice survey of Canadian (Ontario) rheumatologists
por: Thorne, Carter, et al.
Publicado: (2013)

Identification and in Silico Characterization of a Novel CASK c.2546T>C (p.V849A) Mutation in a Male Infant with Pontocerebellar Hypoplasia
por: Rama Devi, Akella Radha, et al.
Publicado: (2019)

Effects of exercise training in 23 adults with Pompe disease receiving enzyme therapy
por: van den Berg, Linda, et al.
Publicado: (2013)

Antibody formation to enzyme therapy in classic infantile Pompe disease: implications of patient age
por: van Gelder, C, et al.
Publicado: (2013)

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

Pregnancy in Pompe disease
por: Plöckinger, Ursula
Publicado: (2013)

Feasibility of DBS screening to identify adult patients with Pompe disease in a neuromuscular clinic population
por: Genge, Angela
Publicado: (2013)

Cognitive outcome of classic infantile Pompe patients receiving enzyme therapy
por: Ebbink, BJ, et al.
Publicado: (2013)

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

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

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

Decentralizing treatment services with link ART centres- experience from Karnataka, South India
por: Fahim, Salma, et al.
Publicado: (2012)

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)

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)

Alglucosidase alfa: 5 years of experience in late-onset Pompe disease
por: Schoser, Benedikt
Publicado: (2013)

Did AIDS viruses originate in India?
por: Krishna, Muttineni Radha, et al.
Publicado: (2009)

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

Successful twin pregnancy in a 38-year-old woman with Pompe disease despite interruption of enzyme replacement therapy (ERT)
por: Tiling, N, et al.
Publicado: (2013)

Detection rate of Pompe disease in undiagnosed neuromuscular patients from four major centres in the UK - results of a 12 month prospective audit
por: Willis, Tracey, et al.
Publicado: (2013)

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

Limitations of muscle biopsy in Pompe disease
por: Vissing, John
Publicado: (2013)

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

A higher dose of enzyme therapy in patients with classic infantile Pompe disease seems to improve ventilator-free survival and motor function
por: van Gelder, C, et al.
Publicado: (2013)

Women’s experience of the quality of care in institutional delivery: evidence from a prospective study in rural south India
por: Kilaru, Asha, et al.
Publicado: (2012)

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

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

Cannot write session to /tmp/vufind_sessions/sess_i43lldeq9of0sdupmtqpsu7r74