Disorder of tyrosine metabolism

This study looked at whether a special medical food called Express Plus is acceptable for children and adults with certain inherited metabolic disorders like PKU and maple syrup urine disease. Over 28 days, 28 participants tried the product and reported how well they liked it, ho…

This study tested two different chemotherapy drugs (Treosulfan and Busulfan) given before a stem cell transplant in 106 children with serious non-cancer diseases like immune disorders, metabolic diseases, blood disorders, and bone marrow failure. The goal was to see which drug le…

This study tested a special powdered food called TYR Sphere in 14 people with tyrosinemia or alkaptonuria. The goal was to see if patients would stick with it, tolerate it well, and keep their metabolic levels in check. Participants used the product for 4 weeks, and researchers t…

This study tested a new method called global metabolomic profiling to diagnose inborn errors of metabolism, a group of rare genetic disorders. Researchers compared this approach to traditional testing in 240 participants. The goal was to see if the new method could more accuratel…

This completed trial tested whether tyrosol (a compound found in olive oil) and creatine, alone or together, can improve endurance, strength, and fatigue resistance in healthy adults. Fifty active men and women aged 18–50 took supplements or a placebo for about 4 weeks. They comp…

This study created a registry of medical records from women with inborn errors of metabolism—rare conditions that affect how the body turns food into energy. Researchers collected data from past or current pregnancies and followed babies for one year after birth. The goal was to …

This completed study looked at how the social networks of caregivers affect their stress and health when caring for someone with an inherited disease. Researchers surveyed over 680 participants, including family members and formal caregivers, to understand caregiving burden and s…

This study looked at how many girls and young women aged 11 to 20 with chronic diseases (like diabetes or immune conditions) got the HPV vaccine, compared to those without chronic illness. Researchers reviewed records of 223 participants from a hospital in France. The goal was to…