Cargando…

Towards values‐based healthcare for inherited metabolic disorders: An overview of current practices for persons with liver glycogen storage disease and fatty acid oxidation disorders

Value‐based healthcare (VBHC) intends to achieve better outcomes for patients, to improve quality of patient care, with reduced costs. Four dimensions define a model of intimately related value‐pillars: personal value, allocative value, technical value, and societal value. VBHC is mostly applied in...

Descripción completa

Detalles Bibliográficos
Autores principales:	Venema, Annieke, Peeks, Fabian, Rossi, Alessandro, Jager, Emmalie A., Derks, Terry G. J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2022
Materias:	Iciem
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9828459/ https://www.ncbi.nlm.nih.gov/pubmed/36088581 http://dx.doi.org/10.1002/jimd.12555

Ejemplares similares

The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases
por: Mathis, Déborah, et al.
Publicado: (2022)

Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard
por: Kirk, Edwin P., et al.
Publicado: (2022)

A retrospective study of eating and psychosocial problems in patients with hepatic glycogen storage diseases and idiopathic ketotic hypoglycemia: Towards a standard set of patient‐reported outcome measures
por: Venema, Annieke, et al.
Publicado: (2021)

A Prospective Study on Continuous Glucose Monitoring in Glycogen Storage Disease Type Ia: Toward Glycemic Targets
por: Rossi, Alessandro, et al.
Publicado: (2022)

Patient‐reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire study
por: Grünert, Sarah C., et al.
Publicado: (2023)

Treating inborn errors of liver metabolism with stem cells: current clinical development
por: Sokal, Etienne Marc
Publicado: (2014)

A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring
por: Hoogeveen, Irene J., et al.
Publicado: (2018)

The potential of dietary treatment in patients with glycogen storage disease type IV
por: Derks, Terry G. J., et al.
Publicado: (2020)

Next-generation glycogen storage diseases
por: Derks, Terry G. J., et al.
Publicado: (2018)

Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control
por: Peeks, Fabian, et al.
Publicado: (2017)

A retrospective in‐depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: Recommended outcome parameters for glucose management
por: Peeks, Fabian, et al.
Publicado: (2021)

Research priorities for liver glycogen storage disease: An international priority setting partnership with the James Lind Alliance
por: Peeks, Fabian, et al.
Publicado: (2019)

Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions
por: Derks, Terry G. J., et al.
Publicado: (2015)

High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia
por: Haring, Martijn P.D., et al.
Publicado: (2022)

Inherited Platelet Disorders: An Updated Overview
por: Palma-Barqueros, Verónica, et al.
Publicado: (2021)

Impaired Very‐Low‐Density Lipoprotein catabolism links hypoglycemia to hypertriglyceridemia in Glycogen Storage Disease type Ia
por: Hoogerland, Joanne A., et al.
Publicado: (2021)

Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism
por: Kakhlon, Or, et al.
Publicado: (2021)

Role of Astrocytes in the Pathophysiology of Lafora Disease and Other Glycogen Storage Disorders
por: Duran, Jordi
Publicado: (2023)

Glycogen storage disease type Ia: Adult presentation with microcytic anemia and liver adenomas
por: Moest, Wouter, et al.
Publicado: (2018)

An Overview of Canine Inherited Neurological Disorders with Known Causal Variants
por: Cocostîrc, Vlad, et al.
Publicado: (2023)

The multiple faces of urinary glucose tetrasaccharide as biomarker for patients with hepatic glycogen storage diseases
por: Heiner-Fokkema, M. Rebecca, et al.
Publicado: (2020)

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs
por: Derks, Terry G. J., et al.
Publicado: (2021)

Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib
por: Grünert, Sarah C., et al.
Publicado: (2020)

Plasma carnitine concentrations in Medium‐chain acyl‐CoA dehydrogenase deficiency: lessons from an observational cohort study
por: Jager, Emmalie A., et al.
Publicado: (2022)

AA Amyloidosis in a patient with glycogen storage disorder and progressive chronic kidney disease
por: Dick, Jonathan, et al.
Publicado: (2012)

Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders
por: Kumar, Tejashwini Vittal, et al.
Publicado: (2022)

PSUN249 Starvation Ketoacidosis as the Presenting Finding of Glycogen Storage Disorder Type III
por: Fiacco, Nicholas, et al.
Publicado: (2022)

Glycogen storage diseases: An update
por: Gümüş, Ersin, et al.
Publicado: (2023)

Systemic ablation of vitamin D receptor leads to skeletal muscle glycogen storage disorder in mice
por: Das, Anamica, et al.
Publicado: (2021)

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome
por: Sentner, Christiaan P., et al.
Publicado: (2016)

Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report
por: Rossi, Alessandro, et al.
Publicado: (2021)

Glycogen storage disease type 1a is associated with disturbed vitamin A metabolism and elevated serum retinol levels
por: Saeed, Ali, et al.
Publicado: (2020)

Biomarkers in Glycogen Storage Diseases: An Update
por: Molares-Vila, Alberto, et al.
Publicado: (2021)

Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations
por: Rossi, Alessandro, et al.
Publicado: (2020)

ON THE DIFFERING APPEARANCE OF INTRANUCLEAR AND CYTOPLASMIC GLYCOGEN IN LIVER CELLS IN GLYCOGEN STORAGE DISEASE
por: Sheldon, H., et al.
Publicado: (1962)

Successful pregnancy in a woman with glycogen storage disease type 6
por: Grünert, Sarah Catharina, et al.
Publicado: (2021)

Healthcare provider perspectives on inequities in access to care for patients with inherited bleeding disorders
por: Arya, Sumedha, et al.
Publicado: (2020)

Glycogen storage disease presenting as Cushing syndrome
por: Stefater, Margaret A., et al.
Publicado: (2019)

Neurological Characteristics of Pediatric Glycogen Storage Disease
por: Muzetti, Julio Henrique, et al.
Publicado: (2021)

Inherited Disorders of Iron Overload
por: Pantopoulos, Kostas
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_bk3nbtd6l72tremn7qho89apmk