MediFind found 15 doctor with experience in Carbamoyl Phosphate Synthetase 1 Deficiency.
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).
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), Niemann-Pick Disease, and Bone Marrow Transplant.
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.
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 Zellweger 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.
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).
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.
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.
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 Carbamoyl Phosphate Synthetase 1 Deficiency.
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), Propionic Acidemia, Argininosuccinic Aciduria, Pyruvate Carboxylase Deficiency, and Liver Transplant.
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), Carbamoyl Phosphate Synthetase 1 Deficiency, Argininosuccinic Aciduria, 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: 01/09/2026