A5055416528- Lysosomal Storage Disorders Research
- Metabolism and Genetic Disorders
- Clinical Nutrition and Gastroenterology
- Calcium signaling and nucleotide metabolism
- Mitochondrial Function and Pathology
- Retinal Diseases and Treatments
- ATP Synthase and ATPases Research
- Congenital Heart Disease Studies
- Digestive system and related health
- Dysphagia Assessment and Management
- Trypanosoma species research and implications
- Cellular transport and secretion
- Vitamin D Research Studies
- Child Nutrition and Feeding Issues
- Oral and gingival health research
- Cardiovascular Issues in Pregnancy
- Glycogen Storage Diseases and Myoclonus
Gazi University
2023-2024
Abstract Objectives Gaucher disease (GD) is a lysosomal storage caused by glucocerebrosidase (GCase) enzyme deficiency. cells transformed from the macrophages progressive sphingolipid accumulation and infiltrate bone marrow, spleen, liver, other organs. The of substrate causes inflammation, compromised cellular homeostasis, disturbed autophagy. It has been hypothesized that this proinflammatory state GD leads cytokines chemokines release. As result inflammatory process, dysfunction...
Dietary therapy of glycogen storage disease I (GSD I) is based on frequent feeding, with a high intake complex carbohydrates (supplied by uncooked cornstarch), restriction sugars, and lower amount lipids. There limited information about the dietary regimen in patients GSD, which might affect intestinal luminal pH microbiota composition. The aim this study to investigate composition GSD receiving diet treatment.
The mitochondrial elongation factor Tu (EF-Tu), encoded by the TUFM gene, is a GTPase, which part of protein translation mechanism. If it activated, delivers aminoacyl-tRNAs to ribosome. Here, patient was described with homozygous missense variant in [c.1016G>A (p.Arg339Gln)] gene. To date, only six patients have been reported bi-allelic pathogenic variants TUFM, leading combined oxidative phosphorylation deficiency 4 (COXPD4) characterized severe early-onset lactic acidosis, encephalopathy,...
Vitamin D insufficiency is a common public health problem that often unrecognized in children with congenital heart disease, and not generally evaluated at disease (CHD) follow-up. Recent studies have suggested inadequate vitamin status may an adverse effect on cardiovascular health. This study investigates the relationship between levels hemodynamic parameters CHD.Included 40 patients (25 females, 15 males) CHD, who were for Ross failure score, D, parathyroid hormone (PTH), calcium,...