Cargando…

Clinical, morphological and genetic features of a cohort of late onset GSD II patients: typical and atypical presentations

Detalles Bibliográficos
Autores principales:	Barca, E, Musumeci, O, Rodolico, C, Ciranni, A, Vita, G, Toscano, A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Poster Presentation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3667112/ http://dx.doi.org/10.1186/1471-2474-14-S2-P9

Ejemplares similares

S2.3 Therapeutic approaches in the late onset form of GSD II
por: Musumeci, Olimpia, et al.
Publicado: (2011)

Quantitative muscle MRI and functional measures in a cohort of late onset GSD II patients
por: Musumeci, O, et al.
Publicado: (2013)

O-3 Clinical features and outcome measures during 1 year enzyme replacement therapy in late onset GSD II patients
por: Angelini, C., et al.
Publicado: (2011)

Vacuolated PAS-Positive Lymphocytes on Blood Smear: An Easy Screening Tool and a Possible Biomarker for Monitoring Therapeutic Responses in Late Onset Pompe Disease (LOPD)
por: Parisi, Daniela, et al.
Publicado: (2018)

Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects
por: Lupica, Antonino, et al.
Publicado: (2022)

Atypical parkinsonism can be a presenting feature of late‐onset Huntington's disease
por: Salari, Mehri, et al.
Publicado: (2022)

Case Report: Thymidine Kinase 2 (TK2) Deficiency: A Novel Mutation Associated With Childhood-Onset Mitochondrial Myopathy and Atypical Progression
por: Manini, Arianna, et al.
Publicado: (2022)

Atypical presentation of a late-onset blue nevus
por: Gupta, Monik, et al.
Publicado: (2022)

MuSK-Associated Myasthenia Gravis: Clinical Features and Management
por: Rodolico, Carmelo, et al.
Publicado: (2020)

SorGSD: a sorghum genome SNP database
por: Luo, Hong, et al.
Publicado: (2016)

DoGSD: the dog and wolf genome SNP database
por: Bai, Bing, et al.
Publicado: (2014)

Clinical and genetic spectrum of GSD type 6 in Korea
por: Hahn, Jong Woo, et al.
Publicado: (2023)

Early is better? A new algorithm for early diagnosis in Late Onset Pompe Disease (LOPD)
por: TOSCANO, ANTONIO, et al.
Publicado: (2013)

Erratum to: SorGSD: a sorghum genome SNP database
por: Luo, Hong, et al.
Publicado: (2016)

Onset of action of atypical and typical antipsychotics in the treatment of acute psychosis
por: Mousavi, Seyed Ghafur, et al.
Publicado: (2013)

Hippo signaling pathway is altered in Duchenne muscular dystrophy
por: Vita, Gian Luca, et al.
Publicado: (2018)

Are the Bacteria and Their Metabolites Contributing for Gut Inflammation on GSD-Ia Patients?
por: Colonetti, Karina, et al.
Publicado: (2022)

Late-onset fibrodysplasia ossificans progressiva with atypical presentation: A case report
por: Cunningham, Conor M., et al.
Publicado: (2019)

Guillain-Barré syndrome associated with COVID-19: an atypical, late-onset presentation
por: Fletman, Elizabeth W., et al.
Publicado: (2021)

Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features
por: Taveira-DaSilva, Angelo M, et al.
Publicado: (2019)

Right-Side Endocarditis: A Typical Presentation in an Atypical Patient
por: Pais, João P, et al.
Publicado: (2021)

Finding balance between mature and immature neutrophils: The effects of empagliflozin in GSD‐Ib
por: Guerra, Fabiola, et al.
Publicado: (2023)

Breast Metastases from Extramammary Malignancies: Typical and Atypical Ultrasound Features
por: Mun, Sung Hee, et al.
Publicado: (2014)

A Typical Presentation of an Atypical Condition: Hepatic Angiosarcoma With Peritoneal Bleed
por: Afzal, Soha, et al.
Publicado: (2023)

A Phase 1/2 Study of Flavocoxid, an Oral NF-κB Inhibitor, in Duchenne Muscular Dystrophy
por: Vita, Gian Luca, et al.
Publicado: (2021)

Suppression of pullulanase-induced cytotoxic T cell response with a dual promoter in GSD IIIa mice
por: Lim, Jeong-A, et al.
Publicado: (2022)

SorGSD: updating and expanding the sorghum genome science database with new contents and tools
por: Liu, Yuanming, et al.
Publicado: (2021)

A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum
por: Kiely, Bridget T., et al.
Publicado: (2022)

Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales
por: Adams, Louisa, et al.
Publicado: (2023)

Late Onset Atypical Pantothenate-Kinase-Associated Neurodegeneration
por: Diaz, Natalie
Publicado: (2013)

Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)
por: Serrano-Lorenzo, Pablo, et al.
Publicado: (2022)

Adult-Onset Still’s Disease: Typical Presentation, Delayed Diagnosis
por: Seco, Tiago, et al.
Publicado: (2020)

Bizarre Parosteal Osteochondromatous Proliferation– A Case Series of Typical and Atypical Presentations
por: Bajwa, Supreet N, et al.
Publicado: (2020)

Typical and Atypical Presentations of Appendicitis and Their Implications for Diagnosis and Treatment: A Literature Review
por: Echevarria†, Sophia, et al.
Publicado: (2023)

Editorial: Word Morphology and Written Language Acquisition: Insights From Typical and Atypical Development in Different Orthographies
por: Duncan, Lynne G., et al.
Publicado: (2019)

Features of primary pancreatic lymphoma: A bi-institutional review with an emphasis on typical and atypical imaging features
por: Segaran, Nicole, et al.
Publicado: (2021)

Typical and Atypical Manifestations of Intrathoracic Sarcoidosis
por: Park, Hyun Jin, et al.
Publicado: (2009)

Management of Typical and Atypical Hangman's Fractures
por: Al-Mahfoudh, Rafid, et al.
Publicado: (2015)

Atypical diagnosis for typical lung carcinoid
por: Piro, Roberto, et al.
Publicado: (2019)

Diagnosis of GERD in typical and atypical manifestations
por: Silvia, Cesario, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_leq1nulch8gsaql6jcg3l5hoeq