Cargando…

Detection rate of Pompe disease in undiagnosed neuromuscular patients from four major centres in the UK - results of a 12 month prospective audit

Detalles Bibliográficos
Autores principales:	Willis, Tracey, Roberts, Mark, Hilton-Jones, David, Quinlivan, Ros, Hanna, Mike, Straub, Volker
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Poster Presentation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3666948/ http://dx.doi.org/10.1186/1471-2474-14-S2-P20

Ejemplares similares

Clinical outcome of SARS-CoV-2 infection in 7 adults with Duchenne muscular dystrophy attending a specialist neuromuscular centre
por: Quinlivan, Ros, et al.
Publicado: (2021)

Response to: the adult multidisciplinary respiratory neuromuscular clinic
por: Willis, Tracey, et al.
Publicado: (2020)

Standards of care in neuromuscular fields
por: Straub, Volker
Publicado: (2013)

Fatigue in neuromuscular disorders: focus on Guillain–Barré syndrome and Pompe disease
por: de Vries, J. M., et al.
Publicado: (2009)

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

National Audit of Seizure management in Hospitals (NASH): results of the national audit of adult epilepsy in the UK
por: Dixon, Peter A, et al.
Publicado: (2015)

Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK
por: Figueroa-Bonaparte, S, et al.
Publicado: (2016)

Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices: The IPaNeMA Study
por: Wencel, Marie, et al.
Publicado: (2021)

Multi-centre national audit of juvenile localised scleroderma: describing current UK practice in disease assessment and management
por: Lythgoe, Hanna, et al.
Publicado: (2018)

An audit of the cervical screening programme in the National Drug Treatment Centre (NDTC)
por: Haran, Maeve, et al.
Publicado: (2021)

AAV-mediated delivery of secreted acid α-glucosidase with enhanced uptake corrects neuromuscular pathology in Pompe mice
por: Meena, Naresh K., et al.
Publicado: (2023)

Pompes turbomoleculaires
por: Versolatto, B
Publicado: (1982)

Undiagnosed Genetic Muscle Disease in the North of England: an in Depth Phenotype Analysis
por: Harris, Elizabeth, et al.
Publicado: (2013)

The UK Online Gender Audit 2018: A comprehensive audit of gender within the UK's online environment
por: Huluba, Ana-Maria, et al.
Publicado: (2018)

MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide
por: Reza, Mojgan, et al.
Publicado: (2017)

European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders
por: van den Bersselaar, Luuk R., et al.
Publicado: (2022)

Characteristics of Pompe disease in China: a report from the Pompe registry
por: Zhao, Yuying, et al.
Publicado: (2019)

UK national chronic hypoparathyroidism audit
por: Kiam, Jian Shen, et al.
Publicado: (2022)

Malignant spinal cord compression: a retrospective audit of clinical practice at a UK regional cancer centre
por: McLinton, A, et al.
Publicado: (2006)

Mental health diagnoses in adults with phenylketonuria: a retrospective systematic audit in a large UK single centre
por: Altman, George, et al.
Publicado: (2021)

Raccords de pompes
por: Riboni, P
Publicado: (1976)

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

Familial Pompe Disease
por: Tecellioglu, Mehmet, et al.
Publicado: (2015)

Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience
por: de las Heras, Javier, et al.
Publicado: (2021)

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

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain
por: Gonzalez-Quereda, Lidia, et al.
Publicado: (2020)

The First Year Experience of Newborn Screening for Pompe Disease in California
por: Tang, Hao, et al.
Publicado: (2020)

5612994 A ONE-YEAR AUDIT OF PREGNANCY MANAGEMENT AND OUTCOMES IN WOMEN WITH SICKLE DISORDERS AT A SINGLE UK CENTRE
por: Stuart-Smith, S., et al.
Publicado: (2023)

Anticancer therapy within the last 30 days of life: results of an audit and re-audit cycle from an Australian regional cancer centre
por: Nguyen, Mike, et al.
Publicado: (2020)

Use of melatonin: a single-centre audit
por: Dack, Rebecca, et al.
Publicado: (2022)

Genetic counseling in Pompe disease
por: Taglia, Antonella, et al.
Publicado: (2011)

Hearing in adults with Pompe disease
por: van der Beek, Nadine A. M. E., et al.
Publicado: (2011)

Les pompes à chaleur
por: Veith, Heinz, et al.
Publicado: (1974)

Les pompes à chaleur
por: Dumon, Roger, et al.
Publicado: (1980)

Pompe 3500 1/s MSC
por: Versolatto, B
Publicado: (1978)

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

Clinical features of Pompe disease
por: MANGANELLI, FIORE, et al.
Publicado: (2013)

Newborn Screening for Pompe Disease
por: Sawada, Takaaki, et al.
Publicado: (2020)

An 18-Month-Old Child with Infantile Pompe Disease: Oral Signs
por: Ceyhan, Derya, et al.
Publicado: (2017)

Identification of Intervention Opportunities through Assessment of the Appropriateness of Antibiotic Prescribing in Surgical Patients in a UK Hospital Using a National Audit Tool: A Single Centre Retrospective Audit
por: Hearsey, Daniel John, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_6hp5p8be47vr8jps7md2uuvi4h