MediFind found 17 doctor with experience in Carbamoyl Phosphate Synthetase 1 Deficiency.
Nicola Brunetti-Pierri is a Pediatrics specialist and a Medical Genetics provider in Houston, Texas. Dr. Brunetti-Pierri is rated as an Elite provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Pyruvate Decarboxylase Deficiency, Crigler-Najjar Syndrome, Rotor Syndrome, and Pyruvate Dehydrogenase Deficiency.
Nathalie Guffon practices in Lyon, France. Ms. Guffon is rated as an Elite expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Alpha Mannosidosis, Acid Sphingomyelinase Deficiency (ASMD), Mucopolysaccharidoses (MPS), and Niemann-Pick Disease.
Andrea Gropman is a Pediatric Neurologist and a Neurologist in Memphis, Tennessee. Dr. Gropman is rated as an Elite provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Klinefelter Syndrome, Urea Cycle Disorders (UCD), MELAS Syndrome, Ornithine Transcarbamylase Deficiency, and Hormone Replacement Therapy (HRT).
Johannes Haberle practices in Zurich, Switzerland. Mr. Haberle is rated as an Elite expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Urea Cycle Disorders (UCD), Ornithine Transcarbamylase Deficiency, N-Acetylglutamate Synthase Deficiency, Citrullinemia, and Liver Transplant.
Texas Childrens Physician Group
Brendan Lee is a Medical Genetics specialist and a Pediatrics provider in Houston, Texas. Dr. Lee is rated as an Elite provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Argininosuccinic Aciduria, Urea Cycle Disorders (UCD), Osteogenesis Imperfecta, and Spondyloepimetaphyseal Dysplasia Strudwick Type. Dr. Lee is currently accepting new patients.
Sarah Elsea is a Medical Genetics provider in Houston, Texas. Dr. Elsea is rated as a Distinguished provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Smith-Magenis Syndrome, Potocki-Lupski Syndrome, Hypotonia, and Urea Cycle Disorders (UCD).
Childrens Health Care Associates Inc
Can Ficicioglu is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Ficicioglu is rated as a Distinguished provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Classic Galactosemia, Urea Cycle Disorders (UCD), Galactose Epimerase Deficiency, and Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome).
Nicholas Ah Mew is a Medical Genetics specialist and a Pediatrics provider 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. His top areas of expertise are Urea Cycle Disorders (UCD), Maple Syrup Urine Disease, Argininosuccinic Aciduria, and Propionic Acidemia.
University Physicians Incorporated
Shawn Mccandless is a Medical Genetics specialist and a Pediatrics provider in Aurora, Colorado. Dr. Mccandless is rated as a Distinguished provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are 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 in Pittsburgh, Pennsylvania. Dr. Lichter-Konecki is rated as a Distinguished provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Maple Syrup Urine Disease, and Hypotonia.
Xinwen Huang practices in Hangzhou, China. Huang is rated as a Distinguished expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Their top areas of expertise are Primary Carnitine Deficiency, Citrullinemia, Urea Cycle Disorders (UCD), and Isovaleric Acidemia.
Qin Sun is a Medical Genetics provider in Houston, Texas. Dr. Sun is rated as a Distinguished provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Purine Nucleoside Phosphorylase Deficiency, Molybdenum Cofactor Deficiency (MoCD), Urea Cycle Disorders (UCD), and Hartnup Disease.
Anupam Chakrapani practices in London, United Kingdom. Mr. Chakrapani is rated as a Distinguished expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Urea Cycle Disorders (UCD), Argininosuccinic Aciduria, Propionic Acidemia, Pyruvate Carboxylase Deficiency, 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. His top areas of expertise are Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, and Arginase Deficiency.
Mildrid Yeo practices in London, United Kingdom. Ms. Yeo is rated as an Advanced expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Urea Cycle Disorders (UCD), Argininosuccinic Aciduria, Carbamoyl Phosphate Synthetase 1 Deficiency, and Autosomal Recessive Cutis Laxa Type 1.
Dennis Bartholomew is a Medical Genetics specialist and a Pediatrics provider in Marietta, Ohio. Dr. Bartholomew is rated as an Advanced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Microcephaly, Urea Cycle Disorders (UCD), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), and Achalasia Microcephaly Syndrome. Dr. Bartholomew is currently accepting new patients.
Preeya Rehsi practices in London, United Kingdom. Ms. Rehsi is rated as an Advanced expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Carbamoyl Phosphate Synthetase 1 Deficiency, SRD5A3-CDG, Urea Cycle Disorders (UCD), and Argininosuccinic Aciduria.
Last Updated: 10/30/2025