The 20 Best Carbamoyl Phosphate Synthetase 1 Deficiency Doctors Near Me
Find Doctors who have experience with Phenylbutyrate
Nathalie Guffon practices practicing medicine in Bron, France. Ms. Guffon is rated as an Elite expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 16 other conditions, according to our data. Her clinical expertise encompasses Alpha Mannosidosis, Acid Sphingomyelinase Deficiency (ASMD), Mucopolysaccharidoses (MPS), and Niemann-Pick Disease.
Children's National Hospital
Andrea Gropman is a Pediatrics provider practicing medicine in Washington, Washington, D.c.. Dr. Gropman is rated as an Elite provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 37 other conditions, according to our data. Her clinical expertise encompasses Klinefelter Syndrome, Urea Cycle Disorders (UCD), MELAS Syndrome, Ornithine Transcarbamylase Deficiency, and Hormone Replacement Therapy (HRT).
Nicola Brunetti-Pierri is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Houston, Texas. Dr. Brunetti-Pierri is rated as an Elite provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 40 other conditions, according to our data. His clinical expertise encompasses Pyruvate Decarboxylase Deficiency, Crigler-Najjar Syndrome, Rotor Syndrome, and Argininosuccinic Aciduria.
Johannes Haberle practices practicing medicine in Zurich, Switzerland. Mr. Haberle is rated as an Elite expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Ornithine Transcarbamylase Deficiency, N-Acetylglutamate Synthase Deficiency, Citrullinemia, and Liver Transplant.
Medical Genetics Metabolic In Lawrenceville
Gerard (Jerry) Vockley MD, PhD, is a medical geneticist and is certified in clinical genetics and biochemical and molecular genetics by the American Board of Medical Genetics and Genomics. He is chief of the Division of Medical Genetics, director of the Center for Rare Disease Therapy, and is the Cleveland Family Endowed Professor of pediatric research at the University of Pittsburgh School of Medicine. He completed his medical degree and PhD at the University of Pennsylvania and completed his residency at the University of Colorado, followed by his fellowship at Yale University School of Medicine. Dr. Vockley is rated as an Advanced 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 Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, and Arginase Deficiency. Dr. Vockley is board certified in American Board Of Medical Genetics And Genomics and American Board Of Medical Genetics And Genomics.
Sarah Elsea is a Medical Genetics provider practicing medicine in Houston, Texas. Dr. Elsea is rated as a Distinguished provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Smith-Magenis Syndrome, Potocki-Lupski Syndrome, Hypotonia, and Zellweger Syndrome.
Nicholas Ah Mew is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Washington, Washington, D.c.. Dr. Ah Mew is rated as a Distinguished provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Maple Syrup Urine Disease, Argininosuccinic Aciduria, and Propionic Acidemia.
Childrens Health Care Associates Inc
Can Ficicioglu is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Ficicioglu is rated as a Distinguished provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 51 other conditions, according to our data. His clinical expertise encompasses Classic Galactosemia, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Urea Cycle Disorders (UCD), and Gaucher Disease.
University Of Minnesota Health Clinics And Surgery Center Inc
Susan Berry is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Minneapolis, Minnesota. Dr. Berry is rated as a Distinguished provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 23 other conditions, according to our data. Her clinical expertise encompasses Urea Cycle Disorders (UCD), Propionic Acidemia, Argininosuccinic Aciduria, and Inborn Amino Acid Metabolism Disorder. Dr. Berry is currently accepting new patients.
University Physicians Incorporated
Shawn Mccandless is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Aurora, Colorado. Dr. Mccandless is rated as a Distinguished provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 25 other conditions, according to our data. His clinical expertise encompasses Prader-Willi Syndrome, Urea Cycle Disorders (UCD), Pyruvate Decarboxylase Deficiency, and Pyruvate Dehydrogenase Deficiency. Dr. Mccandless is currently accepting new patients.
University Of Pittsburgh Physicians
Uta Lichter-Konecki is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Pittsburgh, Pennsylvania. Dr. Lichter-Konecki is rated as a Distinguished provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Maple Syrup Urine Disease, and Hypotonia.
Xinwen Huang practices practicing medicine in Hangzhou, China. Huang is rated as a Distinguished expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. They are also highly rated in 11 other conditions, according to our data. Their clinical expertise encompasses Primary Carnitine Deficiency, Citrullinemia, Urea Cycle Disorders (UCD), and Isovaleric Acidemia.
Great Ormond Street Hospital
Anupam Chakrapani practices practicing medicine in London, United Kingdom. Mr. Chakrapani is rated as a Distinguished expert 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 Argininosuccinic Aciduria, Urea Cycle Disorders (UCD), Propionic Acidemia, Pyruvate Carboxylase Deficiency, and Liver Transplant.
Qin Sun is a Medical Genetics provider practicing medicine in Houston, Texas. Dr. Sun is rated as an Advanced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Purine Nucleoside Phosphorylase Deficiency, Urea Cycle Disorders (UCD), Molybdenum Cofactor Deficiency (MoCD), Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, and Colonoscopy.
Mildrid Yeo practices practicing medicine in London, United Kingdom. Ms. Yeo is rated as an Advanced expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Urea Cycle Disorders (UCD), Argininosuccinic Aciduria, Carbamoyl Phosphate Synthetase 1 Deficiency, and Autosomal Recessive Cutis Laxa Type 1.
Dennis Bartholomew is a Medical Genetics provider practicing medicine in Marietta, Ohio. Dr. Bartholomew is rated as an Advanced 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 Microcephaly, Urea Cycle Disorders (UCD), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), and Achalasia Microcephaly Syndrome. Dr. Bartholomew is currently accepting new patients.
East Liverpool Medical Group
Derek Wong is a primary care provider, practicing in Internal Medicine in East Liverpool, Ohio. Dr. Wong is rated as an Advanced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Degos Disease, Homocystinuria due to MTHFR Deficiency, and Ornithine Transcarbamylase Deficiency.
Great Ormond Street Hospital For Children NHS Foundation Trust
Preeya Rehsi practices practicing medicine in London, United Kingdom. Ms. Rehsi is rated as an Advanced expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Carbamoyl Phosphate Synthetase 1 Deficiency, SRD5A3-CDG, Urea Cycle Disorders (UCD), and Argininosuccinic Aciduria.
Last Updated: 06/30/2026