A5002470428- Metabolism and Genetic Disorders
- Amino Acid Enzymes and Metabolism
- Neonatal Health and Biochemistry
- Pediatric Hepatobiliary Diseases and Treatments
- RNA modifications and cancer
- Folate and B Vitamins Research
- Assisted Reproductive Technology and Twin Pregnancy
- Diet and metabolism studies
- CRISPR and Genetic Engineering
- Infant Nutrition and Health
- Biochemical Acid Research Studies
- Pancreatic function and diabetes
- Zebrafish Biomedical Research Applications
- Reproductive Health and Technologies
- Biochemical and Molecular Research
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
Maastricht University
2018-2022
Nederlandse Vereniging voor Kindergeneeskunde
2020
Perinatal Institute
2020
Maastricht University Medical Centre
2019
Boston Children's Hospital
2019
Dana-Farber/Boston Children's Cancer and Blood Disorders Center
2019
Harvard University
2019
University Medical Center
2018
Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by severe deficiency the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to be very effective treat neonatal life-threatening manifestations and been cornerstone treatment for this disease. However, burdensome complications occur despite lifelong diet. For diseases, patient disease specific registry fundamental monitor lifespan pathology evaluate safety efficacy...
Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need. Current standard of care fails to prevent chronically-debilitating brain and gonadal complications. Many mutations in the GALT gene responsible for classic have been described give rise variants conformational abnormalities. This pathogenic mechanism highly amenable therapeutic strategy based on chemical/pharmacological chaperones. Arginine, chemical chaperone, has shown beneficial effect other inherited...
Abstract Nucleotide sugars (NS) are fundamental molecules in life and play a key role glycosylation reactions signal conduction. Several pathways involved the synthesis of NS. The Leloir pathway, main pathway for galactose metabolism, is crucial production uridine diphosphate (UDP)‐glucose UDP‐galactose. most common metabolic disease affecting this galactose‐1‐phosphate uridylyltransferase (GALT) deficiency, that despite lifelong galactose‐restricted diet, often results chronically...
Abstract Classic galactosemia is a rare inherited disorder of galactose metabolism. Primary ovarian insufficiency (POI) with subfertility affects > 80% female patients and an important concern for their parents. Healthcare providers are often consulted treatment possibilities. An option brought up by the families intrafamilial oocyte donation (mother‐to‐daughter or sister‐to‐sister). In addition to POI, can also present varying cognitive neurological impairments, which may not be fully...