The 20 Best Pompe Disease Doctors in North Carolina, US

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.

Mei-tsi Lawing is a primary care provider, practicing in Family Medicine in Huntersville, North Carolina. Dr. Lawing is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Danon Disease, Pompe Disease, Transient Global Amnesia, and Type 2 Diabetes (T2D). Dr. Lawing is currently accepting new patients.

Matthew Lisi is a Pediatric Cardiologist in Charlotte, North Carolina. Dr. Lisi has been practicing medicine for over 17 years and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Koolen De Vries Syndrome, Wildervanck Syndrome, Microcephaly Deafness Syndrome, and CHARGE Syndrome. Dr. Lisi is currently accepting new patients.

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.

I am a pediatric neurologist and the director of the pediatric neurology sleep medicine program. I treat children with a variety of sleep problems, including narcolepsy, obstructive sleep apnea, and difficulty sleeping. My goal is to engage not only the patient but also the family. Oftentimes, these problems are eminently treatable and even preventable, so it’s very gratifying when I see a child who has a treatable medical disorder and see all of the other areas in the child's and family’s life that are positively affected. I believe Duke is the best place in the world to seek care for children. We pride ourselves on cutting-edge technology and research, but also on compassionate care and being able to relate to families and their needs and values. We have access to ongoing research trials, research information, drugs, and other providers in other subspecialties within the Duke system, so it’s a nice comprehensive care program here. Dr. Kansagra is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Alternating Hemiplegia of Childhood, Pompe Disease, West Syndrome, and Cortical Dysplasia.

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.

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.

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 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 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.

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 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 and researcher who has been at Duke for 25 years. My practice focuses mostly on children who have heart disease. My research involves studying and testing different types of drugs that are used to treat heart problems in children. I chose to be a doctor, because I love to see children grow and develop into healthy adults. Focusing on the heart has allowed me to make a big impact, because I get to treat children for problems while they are young that will improve their quality of life far into their future. Cardiology is also exciting because of the cutting-edge technologies use that we use to treat patients. Duke has an outstanding program for children with heart disease. We take a team approach where we involve the family, the child, nurses, doctors, social workers and others to ensure the best outcome for the child and their family. Dr. Li is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Congenital Heart Disease (CHD), Hypoplastic Left Heart Syndrome (HLHS), Glycogen Storage Disease Type 7, Endocardial Cushion Defect, and Heart Transplant.

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 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.

Munes Fares is a Pediatrics specialist and a Pediatric Cardiologist in Charlotte, North Carolina. Dr. Fares is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Transposition of the Great Arteries, Truncus Arteriosus, Coronary Artery Aneurysm, Ventricular Septal Defects, and Heart Transplant. Dr. Fares is currently accepting new patients.

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.

Although I enjoy taking care of all cardiac patients, my special interests include adult congenital heart disease (patients who were born with heart defects who are now adults), and pregnancy and cardiac disease. Dr. Ward is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Atrioventricular Septal Defect, Partial Atrioventricular Canal, Endocardial Cushion Defect, and Tetralogy of Fallot.