A5023001603- Glycogen Storage Diseases and Myoclonus
- Genetics and Neurodevelopmental Disorders
- Carbohydrate Chemistry and Synthesis
- Neurogenetic and Muscular Disorders Research
- Lysosomal Storage Disorders Research
- Blood disorders and treatments
- Neurological disorders and treatments
- Congenital Heart Disease Studies
- Oral and gingival health research
- Genetic Syndromes and Imprinting
University of Connecticut
2019-2025
Connecticut Children's Medical Center
2018-2019
Childrens Fund for Glycogen Storage Disease Research
2019
Hartford Financial Services (United States)
2019
University of Florida
2015-2016
Florida College
2015-2016
Laboratório Bacchi
2014
Löwenstein Medical (Germany)
2014
Background: Glycogen storage disease type Ia (GSDIa) is a rare inherited disorder that can lead to renal and hepatic complications, brain damage, death. There lack of qualitative research describing the impact GSDIa on individuals their caregivers. Objective: This study was designed describe individual experiences those affected by through methods. Methods: Individuals with caregivers were recruited two patient associations (US, UK). Participants asked write narratives about in own words, no...
Background: Glycogen storage disease type Ia (GSDIa) is a rare inherited disorder that can lead to renal and hepatic complications, brain damage, death. There lack of qualitative research describing the impact GSDIa on individuals their caregivers. Objective: This study was designed describe individual experiences those affected by through methods. Methods: Individuals with caregivers were recruited two patient associations (US, UK). Participants asked write narratives about in own words, no...
Glycogen storage disease Ib (GSD Ib) is characterized by hepatomegaly, hypoglycemia, neutropenia, enterocolitis and recurrent bacterial infections. It attributable to mutations in G6PT1, the gene for glucose-6-phosphate transporter responsible transport of glucose into endoplasmic reticulum. Neutropenia GSD now frequently treated with granulocyte colony-stimulating factor (G-CSF). We formed a cooperative group review outcomes long-term treatment patients G-CSF.The study enrolled 103 (48 men...
Abstract The international liver glycogen storage disease (GSD) priority setting partnership (IGSDPSP) was established to identify the top research priorities in this area. multiphase methodology followed principles of James Lind Alliance (JLA) guidebook. An scoping survey seven languages distributed patients, carers, and healthcare professionals gather uncertainties, which were consolidated into summary questions. existing literature reviewed ensure that questions had not yet been answered....
Glycogen storage disease type I (GSD I) causes severe hypoglycemia during periods of fasting since both glycogenolysis and gluconeogenesis are impaired. Primary treatment in North America consists cornstarch therapy every 3-4 h. Waxy maize extended release was introduced for maintaining overnight glucose concentrations, but no studies have assessed long-term safety efficacy the product.To demonstrate modified GSD I.An open-label trial performed. Subjects with a successful (optimal metabolic...
Background: Impaired glycogen release with fasting results in hypoglycemia the storage diseases. A waxy-maize extended cornstarch was introduced United States 2012 to maintain glucose concentrations during overnight period, but no studies have assessed long-term safety and efficacy of this product ketotic forms GSD. Objective: To assess modified patients Design: An open label trial performed. Subjects who had a successful (defined as optimal metabolic control lasting 2 or more hours than...