The 20 Best Carbamoyl Phosphate Synthetase 1 Deficiency Doctors Near Me
Find Doctors who have experience with Phenylbutyrate
Nathalie Guffon practices practicing medicine in Lyon, 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.
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 39 other conditions, according to our data. His clinical expertise encompasses Crigler-Najjar Syndrome, Rotor Syndrome, Pyruvate Decarboxylase Deficiency, 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 18 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Ornithine Transcarbamylase Deficiency, Citrullinemia, Carbamoyl Phosphate Synthetase 1 Deficiency, and Liver Transplant.
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 15 other conditions, according to our data. Her clinical expertise encompasses Smith-Magenis Syndrome, Potocki-Lupski Syndrome, Hypotonia, and Zellweger Syndrome.
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 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.
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 24 other conditions, according to our data. His clinical expertise encompasses Prader-Willi Syndrome, Urea Cycle Disorders (UCD), Cornelia De Lange Syndrome, and Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2). Dr. Mccandless is currently accepting new patients.
Qin Sun is a Medical Genetics provider practicing medicine in Houston, Texas. Dr. Sun 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), Purine Nucleoside Phosphorylase Deficiency, Molybdenum Cofactor Deficiency (MoCD), Argininosuccinic Aciduria, and Colonoscopy.
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 Citrullinemia, Urea Cycle Disorders (UCD), Primary Carnitine Deficiency, 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 Urea Cycle Disorders (UCD), Argininosuccinic Aciduria, Pyruvate Carboxylase Deficiency, Propionic Acidemia, and Liver Transplant.
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), Carbamoyl Phosphate Synthetase 1 Deficiency, Argininosuccinic Aciduria, and Autosomal Recessive Cutis Laxa Type 1.
Dennis Bartholomew is a Medical Genetics provider practicing medicine in Columbus, 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.
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 Glycogen Storage Disease Type 9.
Last Updated: 09/26/2026