Diego Martinelli practices in Rome, Italy. Mr. Martinelli is rated as an Elite expert by MediFind in the treatment of Ornithine Translocase Deficiency. His top areas of expertise are Ornithine Translocase Deficiency, Methylmalonic Acidemia with Homocystinuria, Kearns-Sayre Syndrome, Progressive External Ophthalmoplegia, and Liver Transplant.

Ferdinando Palmieri practices in Bari, Italy. Mr. Palmieri is rated as an Elite expert by MediFind in the treatment of Ornithine Translocase Deficiency. His top areas of expertise are Ornithine Translocase Deficiency, L-2-Hydroxyglutaric Aciduria, Urea Cycle Disorders (UCD), and Hypotonia.

Dr. Ada Hamosh is the Dr. Frank V. Sutland Professor of Pediatric Genetics in the Departments of Genetic Medicine and Pediatrics. Since 2002, she has served as clinical director of the McKusick-Nathans Institute of Genetic Medicine, now Department of Genetic Medicine and scientific director of the Online Mendelian Inheritance in Man® (OMIM), a catalog of more than 16,800 human genes and genetic disorders created by Dr. Victor A. McKusick. Her research centers the molecular basis of Mendelian disorders, the integration of genetics into clinical practice and the diagnosis and management of inborn errors of metabolism. Dr. Hamosh earned a bachelor’s degree in biology from Wesleyan University, a medical degree from Georgetown University School of Medicine and a master’s of public health from Johns Hopkins University School of Public Health. She later completed a fellowship in medical and biochemical genetics from the Johns Hopkins School of Medicine, before joining the Johns Hopkins faculty in 1992. Dr. Hamosh began her genetics career focusing on cystic fibrosis, serving as coordinator of the International Cystic Fibrosis Genotype-Phenotype Consortium. She served as chair of the Maryland State Advisory Council for Hereditary & Congenital Disorders from 2001-2009, during which time she also served on the executive committee of the Genetic Counseling Training Program, run by Johns Hopkins University and the National Human Genome Research Institute. Dr. Hamosh has authored more than 128 publications on a variety of topics. In addition, she is a member of 16 professional associations and advisory committees including the American Society of Human Genetics, the Steering Committee of the Global Alliance for Genomics and Health, and the executive board of the Human Genome Organization, of which she will be President from 2023-2025. Dr. Hamosh was recognized in Baltimore magazine as one of the region’s top doctors in 2013, and 2016-2020. Dr. Hamosh is rated as an Advanced provider by MediFind in the treatment of Ornithine Translocase Deficiency. Her top areas of expertise are Methylmalonic Acidemia, Maple Syrup Urine Disease, Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), and Deep Brain Stimulation.

Meral Gunay-Aygun is a professor of pediatrics and genetic medicine at Johns Hopkins University School of Medicine. Dr. Gunay-Aygun specializes in the diagnosis and treatment of children and adults with inherited metabolic diseases including diagnostic evaluation and follow-up of newborns with abnormal newborn screens for inherited metabolic diseases. After serving 14 years as an attending physician at The Johns Hopkins Hospital in Baltimore, she joined the medical staff of Johns Hopkins All Children’s Hospital in St. Petersburg, Florida in 2022. Dr. Gunay-Aygun earned her medical degree from Hacettepe University School of Medicine, Ankara, Turkey. She completed pediatrics and medical genetics residencies at Case Western Reserve University, Cleveland, Ohio, and a biochemical genetics fellowship at the National Institutes of Health’s National Human Genome Research Institute, Bethesda, Maryland. She has made numerous research contributions, especially in the study of inherited ciliopathies, for which she has earned international recognition. Dr. Gunay-Aygun received the Innovative Leadership Award from Genetic Alliance, as well as the NHGRI Merit Award for her research on Autosomal Recessive Polycystic Kidney Disease/Congenital Hepatic Fibrosis. She is a member of myriad professional organizations, including the American Society of Human Genetics, the American Academy of Pediatrics, the Society of Pediatric Research and the Society for Inherited Metabolic Disorders. Dr. Gunay is rated as an Advanced provider by MediFind in the treatment of Ornithine Translocase Deficiency. Her top areas of expertise are Phenylketonuria (PKU), Ornithine Translocase Deficiency, Ornithine Transcarbamylase Deficiency, and Argininosuccinic Aciduria.

Raymond Wang is a Medical Genetics provider in Orange, California. Dr. Wang is rated as an Advanced provider by MediFind in the treatment of Ornithine Translocase Deficiency. His top areas of expertise are Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Pompe Disease, and Adenoidectomy.

Jessica Priestley is a Pediatrics specialist and a Medical Genetics provider in Grand Rapids, Michigan. Dr. Priestley has been practicing medicine for over 8 years and is rated as an Advanced provider by MediFind in the treatment of Ornithine Translocase Deficiency. Her top areas of expertise are Fabry Disease, Ornithine Transcarbamylase Deficiency, Biotinidase Deficiency, and Multiple Sulfatase Deficiency.

Mari Mori is a Medical Genetics specialist and a Pediatrics provider in Maitland, Florida. Dr. Mori is rated as an Experienced provider by MediFind in the treatment of Ornithine Translocase Deficiency. Her top areas of expertise are Glycogen Storage Disease Type 7, FG Syndrome, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), and Von Gierke Disease. Dr. Mori is currently accepting new patients.

Angela Zanatta practices in Porto Alegre, Brazil. Ms. Zanatta is rated as a Distinguished expert by MediFind in the treatment of Ornithine Translocase Deficiency. Her top areas of expertise are Ornithine Translocase Deficiency, Refsum Disease, Urea Cycle Disorders (UCD), and Glutaric Acidemia Type 1.

Carlo Vici-Dionisi practices in Rome, Italy. Mr. Vici-Dionisi is rated as a Distinguished expert by MediFind in the treatment of Ornithine Translocase Deficiency. His top areas of expertise are Argininosuccinic Aciduria, Vici Syndrome, Urea Cycle Disorders (UCD), Liver Transplant, and Pancreaticoduodenectomy.

Markey Mcnutt is a Medical Genetics specialist and an Endocrinologist in Frisco, Texas. Dr. Mcnutt is rated as a Distinguished provider by MediFind in the treatment of Ornithine Translocase Deficiency. His top areas of expertise are Ornithine Translocase Deficiency, Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), and Multiple Sulfatase Deficiency.

Femke Molema practices in Rotterdam, Netherlands. Ms. Molema is rated as a Distinguished expert by MediFind in the treatment of Ornithine Translocase Deficiency. Her top areas of expertise are Propionic Acidemia, Methylmalonic Acidemia, Ornithine Translocase Deficiency, Urea Cycle Disorders (UCD), and Kidney Transplant.

Moacir Wajner practices in Porto Alegre, Brazil. Wajner is rated as a Distinguished expert by MediFind in the treatment of Ornithine Translocase Deficiency. Their top areas of expertise are Medium-Chain Acyl-CoA Dehydrogenase Deficiency, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Glutaric Acidemia Type 1, and Sulfite Oxidase Deficiency.

Bianca Goffredo practices in Rome, Italy. Ms. Goffredo is rated as a Distinguished expert by MediFind in the treatment of Ornithine Translocase Deficiency. Her top areas of expertise are Ornithine Translocase Deficiency, Cystinosis, Argininosuccinic Aciduria, Urea Cycle Disorders (UCD), and Bone Marrow Transplant.

Darrel Waggoner is a Medical Genetics provider in Chicago, Illinois. Dr. Waggoner is rated as a Distinguished provider by MediFind in the treatment of Ornithine Translocase Deficiency. His top areas of expertise are Ornithine Transcarbamylase Deficiency, Ornithine Translocase Deficiency, Kabuki Syndrome, Caudal Appendage Deafness, and Gastrostomy. Dr. Waggoner is currently accepting new patients.

Imad Dweikat practices in Janin, Palestine. Mr. Dweikat is rated as a Distinguished expert by MediFind in the treatment of Ornithine Translocase Deficiency. His top areas of expertise are Ornithine Translocase Deficiency, Fanconi Syndrome, Fanconi Bickel Syndrome, and Beta-Ketothiolase Deficiency.

Sara Boenzi practices in Rome, Italy. Ms. Boenzi is rated as a Distinguished expert by MediFind in the treatment of Ornithine Translocase Deficiency. Her top areas of expertise are Ornithine Translocase Deficiency, Niemann-Pick Disease, Non-Langerhans-Cell Histiocytosis, and Acid Sphingomyelinase Deficiency (ASMD).

Li-ying Sun practices in Beijing, China. Sun is rated as a Distinguished expert by MediFind in the treatment of Ornithine Translocase Deficiency. Their top areas of expertise are Caroli Disease, Ornithine Translocase Deficiency, Methylmalonic Acidemia, Liver Transplant, and Splenectomy.

Stefan Kolker practices in Heidelberg, Germany. Mr. Kolker is rated as a Distinguished expert by MediFind in the treatment of Ornithine Translocase Deficiency. His top areas of expertise are Methylmalonyl Coenzyme A Mutase Deficiency, Argininosuccinic Aciduria, Urea Cycle Disorders (UCD), Liver Transplant, and Kidney Transplant.

Johannes Haberle practices in Zurich, Switzerland. Mr. Haberle is rated as a Distinguished expert by MediFind in the treatment of Ornithine Translocase Deficiency. His top areas of expertise are Urea Cycle Disorders (UCD), Ornithine Transcarbamylase Deficiency, N-Acetylglutamate Synthase Deficiency, Citrullinemia, and Liver Transplant.

Allan Lund practices in Copenhagen, Denmark. Mr. Lund is rated as a Distinguished expert by MediFind in the treatment of Ornithine Translocase Deficiency. His top areas of expertise are Primary Carnitine Deficiency, Alpha Mannosidosis, Argininosuccinic Aciduria, Urea Cycle Disorders (UCD), and Bone Marrow Transplant.