The 20 Best Carbamoyl Phosphate Synthetase 1 Deficiency Doctors Near Me in Maryland, US

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 Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 27 other conditions, according to our data. Her clinical expertise encompasses Methylmalonic Acidemia, Maple Syrup Urine Disease, Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), and Deep Brain Stimulation. Dr. Hamosh is board certified in American Board Of Medical Genetics And Genomics.

Mark Davino, M.D., practices internal medicine and pediatrics at Johns Hopkins Community Physicians Odenton. He received his medical degree from the University of Maryland School of Medicine, and also completed his residency in internal medicine & pediatrics at the University of Maryland Medical Center. Dr. Davino is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His clinical expertise encompasses Localized Scleroderma, Type 2 Diabetes (T2D), Maturity Onset Diabetes of the Young, and Glucocorticoid-Remediable Aldosteronism. Dr. Davino is board certified in American Board Of Pediatrics and American Board Of Internal Medicine.

Huma Shakil is a primary care provider, practicing in Internal Medicine in Cumberland, Maryland. Dr. Shakil is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 51 other conditions, according to our data. Her clinical expertise encompasses Hypertension, Familial Hypertension, Glucocorticoid-Remediable Aldosteronism, and Cirrhosis.

Juan Arrabal is a primary care provider, practicing in Family Medicine in Chestertown, Maryland. Dr. Arrabal is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Generalized Resistance to Thyroid Hormone, Thyroid Hormone Plasma Membrane Transport Defect, Familial Hyperthyroidism due to Mutations in TSH Receptor, and Familial Hypertension.

Dr. Hilary Vernon is a Professor of Genetic Medicine and pediatrics at the Johns Hopkins University School of Medicine. She is also an attending physician at Kennedy Krieger Institute. Hilary Vernon has expertise in treating inborn errors of metabolism and mitochondrial disorders. She is the director of the Mitochondrial Care Center at The Johns Hopkins Hospital and the Barth Syndrome Interdisciplinary Clinic at the Kennedy Krieger Institute. Her research interests include understanding intermediary metabolism in Barth syndrome and in disorders of branch chain amino acid metabolism. Dr. Vernon also co-directs the Department of Genetic Medicine Clinical Trials Unit, and is the principal investigator on multiple clinical trials for rare diseases. Dr. Vernon received her medical degree and doctorate from Rutgers University, New Brunswick, New Jersey. She completed residencies in genetics and pediatrics at The Johns Hopkins University, and a fellowship in clinical laboratory biochemical genetics at The Johns Hopkins University. Dr. Vernon was recognized with the 2010 Francis F. Schwentker Award for Excellence in Research at Johns Hopkins University and the 2011 James B. Sidbury Jr. Fellowship in Biochemical Genetics at Johns Hopkins University. Dr. Vernon is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Methylmalonic Acidemia, Propionic Acidemia, Progressive External Ophthalmoplegia, and Infantile Neutropenia. Dr. Vernon is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.

Dr. David Valle is a professor of pediatrics and ophthalmology at the Johns Hopkins School of Medicine and former director of the Johns Hopkins Department of Genetic Medicine. He also serves as a geneticist for the Johns Hopkins Children’s Center. Dr. Valle holds a bachelor’s degree and medical degree from Duke University. He completed a pediatric residency at Johns Hopkins University before joining the Johns Hopkins faculty. He is interested in the genetic contributions to health and disease. He is the founding director of the Johns Hopkins Center for Inherited Disease Research. Over the years, his laboratory has discovered the genetic causation for more than 20 diseases, including those responsible for inborn errors of metabolism, inherited retinal degeneration, disorders of cellular organelle biogenesis and genetic variations that contribute risk for common disorders such as schizophrenia. Dr. Valle also serves as director of the Predoctoral Training Program in Human Genetics, as well as co-director of the Genes to Society program. He was a 2014 recipient of the annual Victor A. McKusick Leadership Award from the American Society of Human Genetics, which recognizes individuals whose professional achievements have fostered and enriched the development of human genetics as well as its assimilation into the broader context of science, medicine and health. Dr. Valle is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Spondyloepimetaphyseal Dysplasia Strudwick Type, Micrognathia, Urea Cycle Disorders (UCD), and Spondyloepiphyseal Dysplasia Congenita. Dr. Valle is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.

Yogesh Vohra is a primary care provider, practicing in Internal Medicine in Salisbury, Maryland. Dr. Vohra is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 87 other conditions, according to our data. His clinical expertise encompasses COVID-19, Glucocorticoid-Remediable Aldosteronism, Hypertension, Gastrostomy, and Endoscopy.

Prasad Savana is a primary care provider, practicing in Internal Medicine in Annapolis, Maryland. Dr. Savana is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Dementia, Familial Hypertension, Glucocorticoid-Remediable Aldosteronism, Hypertension, and Hip Replacement.

Fei Zhao is a primary care provider, practicing in Internal Medicine in Parkville, Maryland. Dr. Zhao is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Deep Vein Thrombosis, Epilepsy, Dementia, Glucocorticoid-Remediable Aldosteronism, and Vitrectomy.

Maw Oo is a primary care provider, practicing in Internal Medicine in Towson, Maryland. He has been practicing medicine for over 44 years. Dr. Oo is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 22 other conditions, according to our data. His clinical expertise encompasses Acute Kidney Failure, Sepsis, Atypical Pneumonia, Endoscopy, and Colonoscopy.

Qinglin Gao is a primary care provider, practicing in Internal Medicine in Timonium, Maryland. Dr. Gao is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 41 other conditions, according to our data. His clinical expertise encompasses Pleurisy, Hospital-Acquired Pneumonia, Atypical Pneumonia, Endoscopy, and Gastrostomy.

Thea Manlapaz is a primary care provider, practicing in Family Medicine in Baltimore, Maryland. Dr. Manlapaz is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses End-Stage Renal Disease (ESRD), Familial Hypertension, Glucocorticoid-Remediable Aldosteronism, and Hypertension.

David Wholey is a primary care provider, practicing in Internal Medicine in Bel Air, Maryland. Dr. Wholey is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 63 other conditions, according to our data. His clinical expertise encompasses Hospital-Acquired Pneumonia, Atypical Pneumonia, Pneumonia, Endoscopy, and Hip Replacement.

Velmourougane Natesan is a primary care provider, practicing in Internal Medicine in Salisbury, Maryland. Dr. Natesan is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 88 other conditions, according to our data. His clinical expertise encompasses Hypertension, Glucocorticoid-Remediable Aldosteronism, Familial Hypertension, Endoscopy, and Pacemaker Implantation.

Sai Kunkala is a primary care provider, practicing in Internal Medicine in Elkton, Maryland. Dr. Kunkala is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Gitelman Syndrome, Low Potassium Level, Hospital-Acquired Pneumonia, Fasciotomy, and Ureteroscopy.

Joanna Jacob is a primary care provider, practicing in Family Medicine in Parkville, Maryland. She has been practicing medicine for over 10 years. Dr. Jacob is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Dementia, Protein Deficiency, Pericarditis, and Sialic Acid Storage Disease.

Harjit Sidhu is a primary care provider, practicing in Internal Medicine in Cumberland, Maryland. Dr. Sidhu is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Peptic Ulcer, Necrosis, Ascites, and Anemia.

Muhammad Naeem is a primary care provider, practicing in Internal Medicine in Millersville, Maryland. Dr. Naeem is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 19 other conditions, according to our data. His clinical expertise encompasses Anemia, Hypothyroidism, Familial Hypertension, and Hypertension.

Jean Welsh is a primary care provider, practicing in Family Medicine in Silver Spring, Maryland. Dr. Welsh is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Vitamin D Deficiency, Hypertrophic Cardiomyopathy (HCM), Subvalvular Aortic Stenosis, and High Cholesterol.

Sharad Satyal is a primary care provider, practicing in Internal Medicine in Salisbury, Maryland. Dr. Satyal is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 50 other conditions, according to our data. His clinical expertise encompasses Familial Hypertension, Hypertension, Glucocorticoid-Remediable Aldosteronism, Endoscopy, and Gastrostomy.