MediFind found 222 doctor with experience in Dihydropteridine Reductase Deficiency. Of these, 116 are Experienced, 103 are Advanced and 3 are Distinguished.
State University Of Iowa
Amy Calhoun is a Medical Genetics specialist and a Pediatrics provider in Iowa City, Iowa. Dr. Calhoun is rated as an Experienced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. Her top areas of expertise are Wolf-Hirschhorn Syndrome, Otospondylomegaepiphyseal Dysplasia, MELAS Syndrome, and Costello Syndrome. Dr. Calhoun is currently accepting new patients.
AOU Citta' Della Salute E Della Scienza Di Torino
Francesco Porta practices in Turin, Italy. Mr. Porta is rated as a Distinguished expert by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His top areas of expertise are Phenylketonuria (PKU), Dihydropteridine Reductase Deficiency, Isovaleric Acidemia, Inborn Amino Acid Metabolism Disorder, and Liver Transplant.
Mahoko Furujo practices in Okayama, Japan. Furujo is rated as a Distinguished expert by MediFind in the treatment of Dihydropteridine Reductase Deficiency. Their top areas of expertise are Dihydropteridine Reductase Deficiency, Hypermethioninemia, Gaucher Disease Type 2, and Mucopolysaccharidoses (MPS).
Marco Spada practices in Rome, Italy. Mr. Spada is rated as a Distinguished expert by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His top areas of expertise are Argininosuccinic Aciduria, Methylmalonic Acidemia, Fabry Disease, Liver Transplant, and Hepatectomy.
Emory Clinic At 1365 Clifton Road
William Wilcox is a Medical Genetics provider in Atlanta, Georgia. Dr. Wilcox has been practicing medicine for over 37 years and is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His top areas of expertise are Fabry Disease, Achondroplasia, Mucopolysaccharidoses (MPS), and Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome).
Angelo Avogaro practices in Padova, Italy. Mr. Avogaro is rated as an Advanced expert by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His top areas of expertise are Type 2 Diabetes (T2D), Low Blood Sugar, Type 1 Diabetes (T1D), and Metabolic Syndrome.
Albany Medical College
Carlos Mares-Beltran is a Medical Genetics specialist and a Pediatrics provider in Albany, New York. Dr. Mares-Beltran is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His top areas of expertise are Mucolipidosis 3, Dihydropteridine Reductase Deficiency, Maternal Hyperphenylalaninemia, and Chromosome 6 Uniparental Disomy.
Fairview Express Care
Chester Whitley is a Pediatrics specialist and a Medical Genetics provider in Minneapolis, Minnesota. Dr. Whitley is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His top areas of expertise are Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome), and Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A). Dr. Whitley is currently accepting new patients.
Icahn School Of Medicine At Mount Sinai
Margo Breilyn is a Medical Genetics specialist and a Pediatrics provider in New York, New York. Dr. Breilyn is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. Her top areas of expertise are Urea Cycle Disorders (UCD), Ornithine Transcarbamylase Deficiency, Short-Chain Acyl-CoA Dehydrogenase Deficiency, and Tyrosinemia Type 1.
Children's Hospital Pediatric Associates, Inc
Stephanie Sacharow is a Medical Genetics specialist and a Pediatrics provider in Boston, Massachusetts. Dr. Sacharow is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. Her top areas of expertise are Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Cat Eye Syndrome, and Dihydropteridine Reductase Deficiency. Dr. Sacharow is currently accepting new patients.
Shoji Yano is a Medical Genetics provider in Los Angeles, California. Dr. Yano is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His top areas of expertise are Phenylketonuria (PKU), Infantile Refsum Disease, Methylmalonic Acidemia, and Maternal Hyperphenylalaninemia.
Children's Hospital Pediatric Associates, Inc
Amy Kritzer is a Medical Genetics specialist and a Pediatrics provider in Boston, Massachusetts. Dr. Kritzer is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. Her top areas of expertise are Maternal Hyperphenylalaninemia, Phenylketonuria (PKU), Biotinidase Deficiency, and Smith-Lemli-Opitz Syndrome. Dr. Kritzer is currently accepting new patients.
Icahn School Of Medicine At Mount Sinai
Mary Lopiccolo is a Medical Genetics specialist and a Pediatrics provider in New York, New York. Dr. Lopiccolo is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. Her top areas of expertise are Glutaric Acidemia Type 2, Dihydropteridine Reductase Deficiency, Maternal Hyperphenylalaninemia, and Carnitine Palmitoyltransferase 1 Deficiency.
Lpch Medical Group Div Of Lucile
Gregory Enns is a Medical Genetics specialist and a Pediatrics provider in Palo Alto, California. Dr. Enns is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His top areas of expertise are Urea Cycle Disorders (UCD), Methylmalonic Acidemia, Cholesteryl Ester Storage Disease, and Arginase Deficiency. Dr. Enns is currently accepting new patients.
Richard Chang is a Medical Genetics provider in Orange, California. Dr. Chang is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His top areas of expertise are Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Adrenoleukodystrophy (ALD), and Citrullinemia. Dr. Chang is currently accepting new patients.
Rhode Island Hospital
Chanika Phornphutkul is a Medical Genetics specialist and a Pediatric Endocrinologist in Providence, Rhode Island. Dr. Phornphutkul is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. Her top areas of expertise are Rommen Mueller Sybert Syndrome, Maternal Hyperphenylalaninemia, Dihydropteridine Reductase Deficiency, and Phenylketonuria (PKU).
University Family Physicians, Inc.
Bryan Hainline is a Medical Genetics specialist and a Pediatrics provider in Indianapolis, Indiana. Dr. Hainline is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His top areas of expertise are Phenylketonuria (PKU), Pyruvate Carboxylase Deficiency, Urea Cycle Disorders (UCD), and Inborn Amino Acid Metabolism Disorder. Dr. Hainline is currently accepting new patients.
Luis Umana is a Pediatrics specialist and a Medical Genetics provider in Dallas, Texas. Dr. Umana is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His top areas of expertise are Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Classic Galactosemia, Biotinidase Deficiency, and 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency.
Lurie Children's Medical Group Inc.
Joel Charrow is a Medical Genetics specialist and a Pediatrics provider in Chicago, Illinois. Dr. Charrow is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His top areas of expertise are Gaucher Disease Type 1, Gaucher Disease, Achondroplasia, Isovaleric Acidemia, and Splenectomy.
Mainehealth
Wendy Smith is a Medical Genetics specialist and a Pediatrics provider in Portland, Maine. Dr. Smith is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. Her top areas of expertise are Phenylketonuria (PKU), Urea Cycle Disorders (UCD), Maternal Hyperphenylalaninemia, and Dihydropteridine Reductase Deficiency.
Last Updated: 10/30/2025