The 20 Best Pompe Disease Doctors near Durham, NC

Priya Kishnani is a Pediatrics provider in Durham, North Carolina. Dr. Kishnani is rated as an Elite provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Glycogen Storage Disease Type 3, Hypophosphatasia (HPP), Glycogen Storage Disease Type 9, and Splenectomy. Dr. Kishnani is currently accepting new patients.

My practice includes caring for children and adults with inherited conditions, such as inherited disorders of metabolism, genetic syndromes, mitochondrial disorders, inherited causes of growth failure or developmental delay, and conditions detected by newborn screening. My clinic works with the Pediatric Biochemical Genetics Laboratory to diagnose these conditions. We provide treatment for inherited disorders of metabolism. I work closely with the geneticists, neurologists, pediatricians, internists, and other providers at Duke University Medical Center to provide comprehensive care for my patients. My research has been aimed at developing new treatments for inherited conditions, focusing on glycogen storage diseases, like Pompe disease and von Gierke disease. We have developed gene therapy for these conditions and are in the process of starting clinical trials to test safety and benefits. Dr. Koeberl is rated as an Elite provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease, Von Gierke Disease, X-Linked Creatine Deficiency, and Kearns-Sayre Syndrome.

Stephanie Dearmey is a Physician Assistant in Durham, North Carolina. Ms. Dearmey has been practicing medicine for over 27 years and is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Gaucher Disease Type 1, and Glycogen Storage Disease Type 3.

Gail Spiridigliozzi is a Pediatrics provider in Durham, North Carolina. Dr. Spiridigliozzi is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, X-Linked Creatine Deficiency, Autism Spectrum Disorder, and Hypotonia. Dr. Spiridigliozzi is currently accepting new patients.

Lisa Hobson is a Neurologist in Durham, North Carolina. Dr. Hobson has been practicing medicine for over 25 years and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Myasthenia Gravis, Chronic Inflammatory Demyelinating Polyneuropathy, Peripheral Neuropathy, and Andersen-Tawil Syndrome.

I see patients with mitochondrial and lysosomal storage diseases, developmental delay, intellectual disability, chromosomal disorders, congenital defects, short stature, failure to thrive, and adult genetic disorders. I love the application of rapidly growing genetic knowledge to treat patients with a variety of medical problems that involve a complex interaction of genetic and environmental factors, particularly since the Human Genome Project. I find it fascinating to use the massive power of sequencing technology and artificial intelligence/machine learning to predict phenotypes from genotypes with increasing clinical relevance to human health. In my spare time, I like to hike and play sports with my wife and teenage sons, play piano, and learn famous Russian poetry of the 19th century. I see patients in person and through telehealth. Dr. Niyazov is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Early Infantile Epileptic Encephalopathy, Macroglossia, Ehlers-Danlos Syndrome (EDS), and Microcephaly.

I am proud to serve as the Chief of the Duke Division of Gastroenterology. In addition to my administrative duties, I enjoy my clinical practice focused on the care of patients with liver diseases. I also continue to participate in clinical research and hope that these studies offer our patients the latest advances and treatment options. Dr. Muir is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Hepatitis C, Hepatitis, Sclerosing Cholangitis, Liver Transplant, and Kidney Transplant.

I am a neurologist and neuromuscular specialist at Duke Health. I have a special interest in evaluating and treating patients with autoimmune muscle diseases, such as myositis, but I also see patients with a wide variety of neuromuscular conditions, including neuropathies, neuromuscular junction disorders, ALS, and other myopathies, such as muscular dystrophies. I also specialize in chemodenervation to treat patients with cervical dystonia and blepharospasm. Dr. Gonzalez is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Myasthenia Gravis, Primary Lateral Sclerosis, Multifocal Motor Neuropathy, and Chronic Inflammatory Demyelinating Polyneuropathy.

My work is aimed at trying to understand how heart failure develops and how we can develop a new type of drug therapy for that condition. Heart failure happens to run in my family – I have a relative with the disease. In many ways, that has had an impact on what I’m doing. Duke provides a lot of cutting-edge care for people who suffer from congestive heart failure. We are a large transplant center and have expertise in the care of patients with advanced heart failure and for patients who need advanced therapies. We also have expertise in the research realm, which really provides a lot of insight into the care of patients. Duke is a world-class institution. I’m really lucky to work here and to be among a lot of folks who are bright and innovative and really interested in patient care. Dr. Abraham is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Heart Failure, Pulmonary Edema, Heart Failure with Preserved Ejection Fraction (HFpEF), Pacemaker Implantation, and Cardiac Ablation.

Thomas Weber is an Endocrinologist in Durham, North Carolina. Dr. Weber has been practicing medicine for over 37 years and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Hypophosphatemia, Rickets, X-Linked Hypophosphatemia, Malnutrition, and Parathyroidectomy.

Kanecia Zimmerman is a primary care provider, practicing in Pediatrics in Durham, North Carolina. Dr. Zimmerman is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Premature Infant, Severe Acute Respiratory Syndrome (SARS), COVID-19, Pompe Disease, and Gastrostomy.

I am a member of the Duke Pediatric and Congenital Heart Center team, providing critical care services to patients with congenital heart diseases. Dr. Hornik is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Premature Infant, High Blood Pressure in Infants, Bronchopulmonary Dysplasia, and Neonatal Sepsis.

My team and I help take care of children with cystic fibrosis. Since cystic fibrosis is complex, it requires a team approach. We work with the parents and caregivers of children with cystic fibrosis to provide the best care that will allow these children to live a happy and healthy life. When I am not at work, I enjoy spending time with my husband and three children. Dr. Elmallah is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Spinal Muscular Atrophy Type 2, Duchenne Muscular Dystrophy, and Pompe Disease.

I am a pediatric infectious diseases specialist with a particular interest in global health. I enjoy caring for children with a variety of infectious diseases both at Duke and at Kilimanjaro Christian Medical Centre and Mawenzi Regional Hospital in Tanzania. I believe children are our future, and I take pride in providing excellent health care for the pediatric population across the spectrum of infectious and tropical diseases. Dr. Dow is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are HIV/AIDS, Pompe Disease, Diarrhea, and Neonatal Sepsis.

John Sleasman is an Allergy and Immunologist in Durham, North Carolina. Dr. Sleasman has been practicing medicine for over 45 years and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Severe Combined Immunodeficiency (SCID), HIV/AIDS, Infantile Neutropenia, and DiGeorge Syndrome.

I specialize in diagnosing and treating heritable arrhythmia syndromes that affect children and young adults such as long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia syndrome, and short QT syndrome. I specialize in identifying the cause of patients who have experienced a sudden cardiac arrest. I am a physician-scientist and cross-trained in pediatric cardiology, electrophysiology, human genetics, and molecular physiology. I lead an active research program that brings together clinical medicine, functional genomics, precision medicine, and molecular and cellular biology. Dr. Landstrom is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Wildervanck Syndrome, Holt-Oram Syndrome, Cardiomyopathy, and Alternating Hemiplegia of Childhood.

I find joy and satisfaction in my dedication to the care of children with rare diseases specifically: genetic disorders and inherited disorders of metabolism. Due to many years of training and practice, I have experience involving care of patients with a variety of genetic and metabolic conditions, including but not limited to glycogen storage diseases, fatty acid oxidation defects, mitochondrial disorders, lysosomal storage diseases, urea cycle disorders, organic acidurias, aminoacidopathies, and infantile hepatopathy due to LARS mutations, etc. I enjoy working together with children and their parents, whom I consider an important part of the team. I pursued this field because it gives me great satisfaction and pleasure to see the children with these conditions grow, and the patients and families feel cared for, and not isolated. I love learning about the children's interests, and see that they grow happy and healthy. I think out of the box when there is a challenge that needs to be met for the patient's care and management. Dr. Hassan is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Von Gierke Disease, Mitochondrial Trifunctional Protein Deficiency, Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, and Micrognathia.

I am a pulmonologist, intensivist, and sleep medicine specialist, with a particular interest in disorders that impact breathing during sleep, such as sleep apnea and hypoventilation. I also evaluate patients with various pulmonary and sleep conditions. My approach consists of listening carefully to patients and understanding what matters to them. We then come up with an individualized treatment plan together after reviewing all the options. Sleep apnea and other related breathing disorders differ with each individual and so does the response to treatment. I believe in working with patients to help make certain therapies, such as PAP devices, more tolerable and effective, while also considering other options. My goal is to help patients achieve good sleep so they can lead a healthier life. It is very gratifying to me when patients who start treatment report experiencing good sleep for the first time in a while. During my free time, I enjoy watching and practicing sports, traveling, and spending time with my family. Dr. Mansour is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Obstructive Sleep Apnea, Exogenous Lipoid Pneumonia, Central Sleep Apnea, and Bronchogenic Cyst.

I am a cardiologist trained and experienced in preventive cardiology. I have served as the medical director of the Duke Cardiac Rehabilitation Program (formerly DUPAC) since 1994. I specialize in the prevention and treatment of heart disease risk factors before and after cardiac disease develops. I direct a program that uses the principles of balancing energy intake and expenditure to treat heart disease and metabolic diseases, such as diabetes. I also have an active practice for assessment and advice for the older athlete who wants to improve performance – whether he or she has heart disease or not. My research is directed at defining the best exercise regimen for the most benefit. Dr. Kraus is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Coronary Heart Disease, Heart Failure, Metabolic Syndrome, Coronary Artery Bypass Graft (CABG), and Heart Bypass Surgery.

Daniel Kenney is a Neurologist in Durham, North Carolina. Dr. Kenney is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Adrenoleukodystrophy (ALD), Cardiofaciocutaneous Syndrome, CACH Syndrome, Seizures, and Thrombectomy.