HomocystinuriaSymptoms, Doctors, Treatments, Advances & More
Homocystinuria Overview
Learn About Homocystinuria
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However, there may be experts who have treated this or similar conditions in our Find a Doctor section and research may be available in our Latest Advances section.
Viktor Kozich practices practicing medicine in Prague, Czech Republic. Mr. Kozich is rated as an Elite expert by MediFind in the treatment of Homocystinuria. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Homocystinuria, Homocystinuria due to MTHFR Deficiency, Molybdenum Cofactor Deficiency (MoCD), and Sulfite Oxidase Deficiency.
Charles Venditti is a Medical Genetics provider practicing medicine in Bethesda, Maryland. Dr. Venditti is rated as an Elite provider by MediFind in the treatment of Homocystinuria. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Methylmalonic Acidemia, Propionic Acidemia, Homocystinuria, and Niemann-Pick Disease.
Landeskrankenhaus Bregenz
Martina Huemer practices practicing medicine in Bregenz, Austria. Ms. Huemer is rated as an Elite expert by MediFind in the treatment of Homocystinuria. She is also highly rated in 13 other conditions, according to our data. Her clinical expertise encompasses Homocystinuria due to MTHFR Deficiency, Inborn Amino Acid Metabolism Disorder, Homocystinuria, and Urea Cycle Disorders (UCD).
Summary: Methylmalonic acidemia (MMA), one of the most common inborn errors of organic acid metabolism, is heterogeneous in etiology and clinical manifestations. Affected patients with cblA, cblB and mut classes of MMA are medically fragile and can suffer from complications such as metabolic stroke or infarction of the basal ganglia, pancreatitis, end stage renal failure, growth impairment, osteoporosis, a...
Summary: Patients, parents of young / handicapped patients, and experts will be interviewed to collect contents relevant for HrQoL in CBS deficiency. Based on these data, a questionnaire will be developed and tested for comprehensibility in patients and parents of young / handicapped patients. A final questionnaire version will be tested for psychometric criteria including validity and reliability.