Cargando…

Analysis of voice quality in patients with late-onset Pompe disease

BACKGROUND: Pompe disease is a progressive metabolic myopathy. Disease progression is characterized, among other features, by progressive dysfunction of the voice apparatus. The aim of this study was to employ electroglottographic, acoustic and nasalance measurement methods on patients with late-ons...

Descripción completa

Detalles Bibliográficos
Autores principales:	Szklanny, Krzysztof, Gubrynowicz, Ryszard, Iwanicka-Pronicka, Katarzyna, Tylki-Szymańska, Anna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4946183/ https://www.ncbi.nlm.nih.gov/pubmed/27417441 http://dx.doi.org/10.1186/s13023-016-0480-5

Ejemplares similares

Follow-up analysis of voice quality in patients with late-onset Pompe disease
por: Szklanny, Krzysztof, et al.
Publicado: (2018)

Voice alterations in patients with Morquio A syndrome
por: Szklanny, Krzysztof, et al.
Publicado: (2017)

Long-term outcome of patients with alpha-mannosidosis – A single center study
por: Lipiński, Patryk, et al.
Publicado: (2021)

Hypothyroidism in late-onset Pompe disease
por: Schneider, Joseph, et al.
Publicado: (2016)

Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature
por: Różdżyńska-Świątkowska, Agnieszka, et al.
Publicado: (2020)

Treatment Dilemma in Children with Late-Onset Pompe Disease
por: Faraguna, Martha Caterina, et al.
Publicado: (2023)

Late-Onset Pompe Disease with Nemaline Bodies
por: Frezza, E., et al.
Publicado: (2018)

Late-onset Pompe disease manifests in the brain
por: Finsterer, Josef
Publicado: (2019)

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

Bone density in patients with late onset Pompe disease
por: Papadimas, George, et al.
Publicado: (2012)

S1.5 Role of the pulmonologist in the late-onset Pompe disease
por: Fiorentino, Giuseppe, et al.
Publicado: (2011)

Fatigue: an important feature of late-onset Pompe disease
por: Hagemans, M. L. C., et al.
Publicado: (2007)

Response: Late-onset Pompe disease manifests in the brain
por: Schneider, Ilka, et al.
Publicado: (2019)

Is the brain involved in patients with late‐onset Pompe disease?
por: van den Dorpel, Jan J. A., et al.
Publicado: (2022)

A Comprehensive Update on Late-Onset Pompe Disease
por: Labella, Beatrice, et al.
Publicado: (2023)

Analysis of the auditory processing skills in 1,012 children aged 6–9 confirms the adequacy of APD testing in 6-year-olds
por: Guzek, Anna, et al.
Publicado: (2022)

Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus
por: Fatehi, Farzad, et al.
Publicado: (2021)

Quantitative analysis of upright standing in adults with late-onset Pompe disease
por: Valle, Maria Stella, et al.
Publicado: (2016)

Quality of life and its contributors among adults with late-onset Pompe disease in China
por: Chen, Shanquan, et al.
Publicado: (2021)

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

Enzyme replacement therapy and antibodies in late-onset Pompe disease
por: Schneider, I., et al.
Publicado: (2014)

Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease()
por: Papadopoulos, C., et al.
Publicado: (2013)

Bright tongue sign in patients with late-onset Pompe disease
por: Karam, Chafic, et al.
Publicado: (2019)

Dynamic respiratory muscle function in late-onset Pompe disease
por: Smith, Barbara K., et al.
Publicado: (2019)

COVID‐19 infection in patients with late‐onset Pompe disease
por: Avelar, Jennifer, et al.
Publicado: (2022)

Late-Onset Pompe Disease Presenting with Isolated Tongue Involvement
por: Al-Hashel, Jasem, et al.
Publicado: (2022)

Auditory Discrimination—A Missing Piece of Speech and Language Development: A Study on 6–9-Year-Old Children with Auditory Processing Disorder
por: Guzek, Anna, et al.
Publicado: (2023)

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

The impact of interrupting enzyme replacement therapy in late-onset Pompe disease
por: Wenninger, Stephan, et al.
Publicado: (2021)

Screening for late-onset Pompe disease in Internal Medicine departments in Spain
por: López-Rodríguez, Mónica, et al.
Publicado: (2023)

Quality of Life with Late-Onset Pompe Disease: Qualitative Interviews and General Public Utility Estimation in the United Kingdom
por: Hubig, Lena, et al.
Publicado: (2023)

Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion
por: Marotto, Daniela, et al.
Publicado: (2023)

Mobility assessment using wearable technology in patients with late-onset Pompe disease
por: Hamed, Alaa, et al.
Publicado: (2019)

Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures
por: Vanherpe, P., et al.
Publicado: (2020)

Standardized nursing management of enzyme replacement therapy for late-onset Pompe disease
por: Tang, Shan, et al.
Publicado: (2021)

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

A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease
por: Dornelles, Alícia Dorneles, et al.
Publicado: (2021)

Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease—an MRI study
por: Vaeggemose, Michael, et al.
Publicado: (2021)

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing
por: Lévesque, Sébastien, et al.
Publicado: (2016)

Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report
por: Zhang, Bin, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_uhmbsiopilmmf202atddekc74u