The 20 Best Pompe Disease Doctors Near Me in Orange, CA
Find the Top Pompe Disease Experts and Specialists
UCI Health ALS & Neuromuscular Center
Dr. Tahseen Mozaffar is a board-certified UCI Health neurologist who specialize in neuromuscular disorders, including amyotrophic lateral sclerosis (ALS), myasthenia gravis, inflammatory myopathies, Pompe disease, muscle pathology and all types of muscular dystrophies.He serves as director of the UCI Health ALS & Neuromuscular Center, one of only six Muscular Dystrophy Association-designated centers in California.Mozaffar earned his medical degree at the Aga Khan University in Karachi, Pakistan, where he completed a rotating internship in internal medicine and general surgery. He completed a neurology residency at Barnes-Jewish Hospital in St. Louis, Mo., followed by a fellowship in neuromuscular disorders at Washington University, also in St. Louis.His research focus includes clinical and translational studies of neuromuscular disorders and he is the principal site investigator of more than a dozen clinical trials for myasthenia gravis, immune myopathies and rare and ultra-rare myopathies. He is also the lead UCI investigator for NeuroNEXT, a collaborative national effort to help streamline phase 2 clinical trials for brain disorders that is supported by the National Institute of Neurological Disorders and Stroke (NINDS).As an expert in rare and ultra-rare myopathies, he advises many pharmaceutical companies on clinical trial design and the identification of disease targets. He serves on a Pompe disease advisory board for Amicus Therapeutics and Spark Therapeutics, as well as on the data safety monitoring board for Acceleron and Sarepta Therapeutics. He also is a reviewer with the Emerging Technologies and Training in Neurosciences (ETTN) group for the National Institutes of Health (NIH). He has co-authored more than 175 peer-reviewed publications and has written or co-written more than a dozen book chapters and reviews.Mozaffar, who is also fluent in Hindi and Urdu, sees patients inIrvineandOrange. Dr. Mozaffar is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 31 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Inclusion Body Myositis, Myositis, Limb-Girdle Muscular Dystrophy, and Thymectomy. Dr. Mozaffar is board certified in American Board Of Psychiatry And Neurology - Neurology.
UC Irvine Medical Center
Dr. Virginia E. Kimonis is a board-certified UCI Health clinician-scientist who specializes in the diagnosis and treatment of children and adults with neuromuscular, neurodegenerative, dysmorphia and other complex disorders.Her clinical interests include inclusion body myopathy, Paget disease, Pompe disease, frontotemporal dementia, Prader Willi syndrome, morbid obesity and craniosynostosis.Kimonis earned her medical degree at the University of Southampton Medical School in Southampton, England. She completed a residency in pediatrics at Massachusetts General Hospital in Boston, followed by a fellowship in clinical and biochemical genetics at the National Institutes of Health (NIH) and Children's National Hospital in Washington, D.C.The author or co-author of more than 175 peer-reviewed publications in prestigious journals, Kimonis has focused her research primarily on inherited muscle disorders, lysosomal storage diseases, Prader Willi and several other rare disorders. She developed the Lysosomal Disease Program, established a registry study among a large cohort of patients with Pompe disease, and conducted a study of resistance training for axial and respiratory muscles in Pompe disease as an adjunct to enzyme replacement treatment.She also discovered multisystem proteinopathy, a new disease type associated with mutations in the VCP gene that overlaps with Pompe disease. She has received research funding from numerous agencies, including NIH, the Muscular Dystrophy Association, the Paget Foundation and other rare disease foundations.Kimonis also is a lead investigator with the newly establishedNational Organization for Rare Disorders (NORD) Rare Disease Center of Excellence, a joint program of UCI Health and Children's Hospital of Orange County (CHOC). Dr. Kimonis is rated as an Elite provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 15 other conditions, according to our data. Her clinical expertise encompasses Prader-Willi Syndrome, Pompe Disease, Fabry Disease, Danon Disease, and Hormone Replacement Therapy (HRT). Dr. Kimonis is board certified in American Board Of Medical Genetics And Genomics - Clinical Genetics And Genomics.
UC Davis Medical Center MIND Institute
Madelena Martin is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Sacramento, California. Dr. Martin is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Pompe Disease, Danon Disease, Phenylketonuria (PKU), and Fabry Disease. Dr. Martin is board certified in Medical Genetics And Genomics Clin Biochemical Genetic and Medical Genetics And Genomics Clin Genetics & Genomic. Dr. Martin is currently accepting new patients.
Hung K. DO DDS Inc.
Hung Do is a primary care provider, practicing in General Practice in Elk Grove, California. Dr. Do is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Fabry Disease, Sialuria, and Sialic Acid Storage Disease.
Raymond Wang is a Medical Genetics provider practicing medicine in Orange, California. Dr. Wang is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 46 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), Mucopolysaccharidosis Type 4A (MPS IVA, Morquio Syndrome Type A), Mucopolysaccharidoses (MPS), and Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome).
Torrance Memorial Physician Network Pulmonary & Sleep-Torrance
John Abe is an Intensive Care Medicine provider practicing medicine in Torrance, California. Dr. Abe is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 22 other conditions, according to our data. His clinical expertise encompasses Lung Metastases, Chronic Obstructive Pulmonary Disease (COPD), Bronchiectasis, Lung Nodules, and Advanced Bronchoscopy.
Nafiz Kiciman is a Pediatric Cardiologist practicing medicine in Orange, California. Dr. Kiciman is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 50 other conditions, according to our data. His clinical expertise encompasses Patent Ductus Arteriosus, Ventricular Septal Defects, Perrault Syndrome, and Turner Syndrome. Dr. Kiciman is currently accepting new patients.
Lucile Packard Children's Hospital Stanford
David Rosenthal is a Pediatric Cardiologist practicing medicine in Palo Alto, California. Dr. Rosenthal is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Heart Failure, Congenital Heart Disease (CHD), Dilated Cardiomyopathy (DCM), Cardiomyopathy, and Heart Transplant.
UCI Health ALS & Neuromuscular Center
Dr. Namita Goyal is a board-certified, fellowship-trained UCI Health neurologist who specializes in the diagnosis and treatment of neuromuscular disorders. She serves as co-director of theUCI Health ALS Neuromuscular Center, one of only six Muscular Dystrophy Association-designated centers in California.Her clinical interests include muscular dystrophies, muscle disease, myasthenia gravis, myositis, amyotrophic lateral sclerosis (ALS) and demyelinating neuropathies. Certified in electrodiagnostic medicine, she performs a number of procedures including adult and pediatric electromyogram (EMG), single-fiber EMG and muscle biopsies.Goyal received her medical degree from Ross University School of Medicine in Bridgetown, Barbados. She completed a residency in neurology at the University of Chicago Medical Center, followed by a fellowship in electromyography, clinical neurophysiology and neuromuscular disease at Harvard University’s Massachusetts General Hospital in Boston, where she subsequently served as a faculty member.Her research interests include ALS, myositis, muscular dystrophies, myopathies and myasthenia gravis. She is the lead site investigator for several clinical trials involving neuromuscular diseases, with a special focus on ALS and myositis, and directs neurology clinical trials for the UCI School of Medicine. She also is the author of several published articles on neuromuscular disorders and is a frequent guest speaker at national conferences.In addition to her clinical and research work, she is a mentor to neurology fellows and residents and serves as director of the Department of Neurology's neuromuscular medicine fellowship program.Goyal sees patients inIrvineandOrange. Dr. Goyal is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 19 other conditions, according to our data. Her clinical expertise encompasses Inclusion Body Myositis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Myositis, and Primary Lateral Sclerosis. Dr. Goyal is board certified in American Board Of Psychiatry And Neurology - Neurology and American Board Of Psychiatry And Neurology - Neuromuscular Medicine.
Thomas Hopkins is a primary care provider, practicing in Internal Medicine in Roseville, California. Dr. Hopkins is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Danon Disease, Obesity, and Glucocorticoid-Remediable Aldosteronism. Dr. Hopkins is board certified in Internal Medicine - Board Certified and Not ABMS Specialty. Dr. Hopkins is currently accepting new patients.
Lucile Packard Children's Hospital Stanford
Beth Kaufman is a Pediatric Cardiologist practicing medicine in Palo Alto, California. Dr. Kaufman is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 18 other conditions, according to our data. Her clinical expertise encompasses Duchenne Muscular Dystrophy, Cardiomyopathy, Dilated Cardiomyopathy (DCM), Becker Muscular Dystrophy, and Heart Transplant.
Cristel Chapel is a Medical Genetics provider practicing medicine in Orange, California. Dr. Chapel is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 20 other conditions, according to our data. Her clinical expertise encompasses Batten Disease, CLN4 Disease, CLN2 Disease, and CLN3 Disease. Dr. Chapel is currently accepting new patients.
Richard Chang is a Medical Genetics provider practicing medicine in Orange, California. Dr. Chang is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 155 other conditions, according to our data. His clinical expertise encompasses Citrullinemia, Beta-Ketothiolase Deficiency, Biotinidase Deficiency, and Adrenoleukodystrophy (ALD). Dr. Chang is currently accepting new patients.
Anjan Batra is a Pediatric Cardiologist practicing medicine in Orange, California. Dr. Batra is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 131 other conditions, according to our data. His clinical expertise encompasses Arrhythmias, Paroxysmal Supraventricular Tachycardia (PSVT), Congenital Heart Block, Congenital Heart Disease (CHD), and Cardiac Ablation. Dr. Batra is currently accepting new patients.
Anthony Mccanta is a Pediatric Cardiologist practicing medicine in Orange, California. Dr. Mccanta is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 150 other conditions, according to our data. His clinical expertise encompasses Congenital Heart Disease (CHD), Tetralogy of Fallot, Arrhythmias, Patent Ductus Arteriosus, and Cardiac Ablation. Dr. Mccanta is currently accepting new patients.
Stanford Hospital And Clinics
Michelle Cao is a Sleep Medicine provider practicing medicine in Stanford, California. Dr. Cao is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Hereditary Ataxia, Obstructive Sleep Apnea, Drowsiness, and Excessive Daytime Sleepiness.
Michael Recto is a Pediatric Cardiologist practicing medicine in Orange, California. Dr. Recto is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 138 other conditions, according to our data. His clinical expertise encompasses Patent Ductus Arteriosus, Ventricular Septal Defects, Pulmonary Atresia with Ventricular Septal Defect, and Dextrocardia with Situs Inversus. Dr. Recto is currently accepting new patients.
Stanford Rehabilitation Clinic
Jenna Klotz is a Neurologist practicing medicine in Palo Alto, California. Dr. Klotz is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 34 other conditions, according to our data. Her clinical expertise encompasses Dysferlinopathy, Duchenne Muscular Dystrophy, Seizures, and Genetic Epilepsy with Febrile Seizures Plus (GEFS+).
Nguyen Pham is a Pediatric Otolaryngologist practicing medicine in Orange, California. Dr. Pham is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 43 other conditions, according to our data. His clinical expertise encompasses Velopharyngeal Insufficiency, Autosomal Cleft Palate, Syngnathia Cleft Palate, and Multiple Epiphyseal Dysplasia. Dr. Pham is currently accepting new patients.
Lucile Packard Children's Hospital Stanford
Mark Chubb is a Pediatric Cardiologist practicing medicine in Palo Alto, California. Dr. Chubb is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 49 other conditions, according to our data. His clinical expertise encompasses Tetralogy of Fallot, Williams Syndrome, Wolff-Parkinson-White Syndrome, and Dextrocardia with Situs Inversus.
Last Updated: 06/30/2026





