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108 doctors found
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Distinguished
Pediatrics
Medical Genetics

Regents Of The University Of Michigan

1500 E Medical Center Dr
 
Ann Arbor, MI 48109

Ayesha Ahmad is a Pediatrics specialist and a Medical Genetics doctor in Ann Arbor, Michigan. Dr. Ahmad has been practicing medicine for over 30 years and is rated as a Distinguished doctor by MediFind in the treatment of Pompe Disease. She is also highly rated in 11 other conditions, according to our data. Her top areas of expertise are Andersen Disease, Pompe Disease, Low Blood Sugar, and Inborn Amino Acid Metabolism Disorder. She is board certified in Pediatric Medicine and licensed to treat patients in Michigan. Dr. Ahmad is currently accepting new patients.

Distinguished
Pediatrics
Medical Genetics

Pediatric Faculty Foundation Inc

225 E Chicago Ave
 
Chicago, IL 60611

Joel Charrow is a Pediatrics specialist and a Medical Genetics doctor in Chicago, Illinois. Dr. Charrow has been practicing medicine for over 45 years and is rated as a Distinguished doctor by MediFind in the treatment of Pompe Disease. He is also highly rated in 65 other conditions, according to our data. His top areas of expertise are Gaucher Disease Type 1, Gaucher Disease, Gaucher Disease Type 2, and Gaucher Disease Type 3. He is board certified in Pediatric Medicine and Medical Genetics And Genomics and licensed to treat patients in Illinois. Dr. Charrow is currently accepting new patients.

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Distinguished
Pediatrics
Medical Genetics

Fairview Express Care

2450 Riverside Ave
 
Minneapolis, MN 55454

Chester Whitley is a Pediatrics specialist and a Medical Genetics doctor in Minneapolis, Minnesota. Dr. Whitley has been practicing medicine for over 41 years and is rated as a Distinguished doctor by MediFind in the treatment of Pompe Disease. He is also highly rated in 78 other conditions, according to our data. His top areas of expertise are Mucopolysaccharidosis Type 1, Mucopolysaccharidosis Type 2, Mucopolysaccharidosis Type 3A, and Mucopolysaccharidosis Type 3. He is board certified in Pediatric Medicine and licensed to treat patients in Minnesota. Dr. Whitley is currently accepting new patients.

Distinguished
Pediatrics
Medical Genetics

Uc Regents Uci Dept Of Pediatrics

Orange, CA 92868

Virginia Kimonis is a Pediatrics specialist and a Medical Genetics doctor in Orange, California. Dr. Kimonis has been practicing medicine for over 45 years and is rated as a Distinguished doctor by MediFind in the treatment of Pompe Disease. She is also highly rated in 20 other conditions, according to our data. Her top areas of expertise are Cytoplasmic Body Myopathy, Paget Disease of the Bone, Paget's Disease of Bone, and Aminoaciduria. She is board certified in Pediatric Medicine and licensed to treat patients in Massachusetts. Dr. Kimonis is currently accepting new patients.

Distinguished
Pediatrics
Medical Genetics

Baystate Medical Practices Inc

759 Chestnut St
 
Springfield, MA 01199

Mary-alice Abbott is a Pediatrics specialist and a Medical Genetics doctor in Springfield, Massachusetts. Dr. Abbott has been practicing medicine for over 21 years and is rated as a Distinguished doctor by MediFind in the treatment of Pompe Disease. She is also highly rated in 30 other conditions, according to our data. Her top areas of expertise are Pompe Disease, Mucopolysaccharidosis Type 1, Glucose Phosphate Isomerase Deficiency, and Danon Disease. She is board certified in Pediatric Medicine and licensed to treat patients in Massachusetts. Dr. Abbott is currently accepting new patients.

Distinguished
Pediatrics
Medical Genetics

Children's Hospital Medical Center

3333 Burnet Ave
 
Cincinnati, OH 45229

Robert Hopkin is a Pediatrics specialist and a Medical Genetics doctor in Cincinnati, Ohio. Dr. Hopkin has been practicing medicine for over 31 years and is rated as a Distinguished doctor by MediFind in the treatment of Pompe Disease. He is also highly rated in 193 other conditions, according to our data. His top areas of expertise are Fabry Disease, Micrognathia, Multiple Sulfatase Deficiency, and Keutel Syndrome. He is board certified in Pediatric Medicine and licensed to treat patients in Ohio. Dr. Hopkin is currently accepting new patients.

Distinguished
Medical Genetics
Pediatrics

Carolinas Medical Center

1000 Blythe Blvd
 
Charlotte, NC 28203

Susan Sparks is a Medical Genetics specialist and a Pediatrics doctor in Charlotte, North Carolina. Dr. Sparks is rated as a Distinguished doctor by MediFind in the treatment of Pompe Disease. She is also highly rated in 34 other conditions, according to our data. Her top areas of expertise are Pompe Disease, Opitz G BBB Syndrome, Andersen Disease, and Smith-Lemli-Opitz Syndrome. She is licensed to treat patients in North Carolina, District of Columbia, Virginia, and Maryland.

Distinguished
Pediatrics
Medical Genetics

Faith Regional Health Services

988102 Nebraska Medical Ctr
 
Omaha, NE 68198

William Rizzo is a Pediatrics specialist and a Medical Genetics doctor in Omaha, Nebraska. Dr. Rizzo is rated as a Distinguished doctor by MediFind in the treatment of Pompe Disease. He is also highly rated in 25 other conditions, according to our data. His top areas of expertise are Sjogren-Larsson Syndrome, Spasticity, Zellweger Syndrome, and Pompe Disease. He is licensed to treat patients in Nebraska. Dr. Rizzo is currently accepting new patients.

Distinguished
Pediatrics
Medical Genetics

Regents Of The Univ Of Ca

2315 Stockton Blvd
 
Sacramento, CA 95817

Madelena Martin is a Pediatrics specialist and a Medical Genetics doctor in Sacramento, California. Dr. Martin has been practicing medicine for over 21 years and is rated as a Distinguished doctor by MediFind in the treatment of Pompe Disease. She is also highly rated in 28 other conditions, according to our data. Her top areas of expertise are Danon Disease, Pompe Disease, Ornithine Transcarbamylase Deficiency, and Ornithine Translocase Deficiency. She is board certified in Medical Genetics And Genomics and Pediatric Medicine and licensed to treat patients in Massachusetts. Dr. Martin is currently accepting new patients.

Advanced
Pediatrics
Medical Genetics

Pediatric Academic Association, Inc.

700 Childrens Dr
 
Columbus, OH 43205

Mari Mori is a Pediatrics specialist and a Medical Genetics doctor in Columbus, Ohio. Dr. Mori has been practicing medicine for over 18 years and is rated as an Advanced doctor by MediFind in the treatment of Pompe Disease. She is also highly rated in 2 other conditions, according to our data. Her top areas of expertise are Glycogen Storage Disease Type 7, Pompe Disease, Familial Isolated Hyperparathyroidism, and Danon Disease. She is board certified in Pediatric Medicine and licensed to treat patients in Ohio. Dr. Mori is currently accepting new patients.

Advanced
Medical Genetics
Pediatrics
Pathology

Rush University Medical Center

1700 W Van Buren St
 
Chicago, IL 60612

Carolyn Jones is a Medical Genetics specialist and a Pediatrics doctor in Chicago, Illinois. Dr. Jones has been practicing medicine for over 30 years and is rated as an Advanced doctor by MediFind in the treatment of Pompe Disease. She is also highly rated in 9 other conditions, according to our data. Her top areas of expertise are Pompe Disease, Maple Syrup Urine Disease, Danon Disease, and Breast Cancer. She is board certified in Pathology and Pediatric Medicine and licensed to treat patients in Illinois. Dr. Jones is currently accepting new patients.

Advanced
Pediatrics
Medical Genetics

Maine Medical Partners

1577 Congress St
 
Portland, ME 04102

Wendy Smith is a Pediatrics specialist and a Medical Genetics doctor in Portland, Maine. Dr. Smith has been practicing medicine for over 26 years and is rated as an Advanced doctor by MediFind in the treatment of Pompe Disease. She is also highly rated in 25 other conditions, according to our data. Her top areas of expertise are Phenylketonuria, Maternal Hyperphenylalaninemia, Dihydropteridine Reductase Deficiency, and Glucose Phosphate Isomerase Deficiency. She is board certified in Pediatric Medicine and Cardiovascular Disease (Cardiology) and licensed to treat patients in Maine. Dr. Smith is currently accepting new patients.

Advanced
Medical Genetics
Pediatrics
Internal Medicine

Mission Health Community Multispecialty Providers LLC

509 Biltmore Ave
 
Asheville, NC 28801

Chad Haldeman-Englert is a Medical Genetics specialist and a Pediatrics doctor in Asheville, North Carolina. Dr. Haldeman-Englert has been practicing medicine for over 19 years and is rated as an Advanced doctor by MediFind in the treatment of Pompe Disease. He is also highly rated in 30 other conditions, according to our data. His top areas of expertise are Multiple Sulfatase Deficiency, Megalencephalic Leukoencephalopathy with Subcortical Cysts, Danon Disease, and Pompe Disease. He is board certified in Pediatric Medicine and Internal Medicine and licensed to treat patients in North Carolina and Pennsylvania. Dr. Haldeman-Englert is currently accepting new patients.

Advanced
Pediatrics
Medical Genetics

University Of Virginia Physicians Group

1204 W Main St
 
Charlottesville, VA 22903

William Wilson is a Pediatrics specialist and a Medical Genetics doctor in Charlottesville, Virginia. Dr. Wilson has been practicing medicine for over 47 years and is rated as an Advanced doctor by MediFind in the treatment of Pompe Disease. He is also highly rated in 34 other conditions, according to our data. His top areas of expertise are Fabry Disease, Multiple Sulfatase Deficiency, Megalencephalic Leukoencephalopathy with Subcortical Cysts, and Pompe Disease. He is board certified in Pediatric Medicine and licensed to treat patients in Virginia. Dr. Wilson is currently accepting new patients.

Advanced
Pediatrics
Medical Genetics

Mount Sinai Hospital

1 Gustave L Levy Pl
 
New York, NY 10029

Melissa Wasserstein is a Pediatrics specialist and a Medical Genetics doctor in New York, New York. Dr. Wasserstein is rated as an Advanced doctor by MediFind in the treatment of Pompe Disease. She is also highly rated in 42 other conditions, according to our data. Her top areas of expertise are Niemann-Pick Disease, Non-Langerhans-Cell Histiocytosis, Histiocytosis, and Methylmalonic Acidemia. She is licensed to treat patients in New York. Dr. Wasserstein is currently accepting new patients.

Advanced
Medical Genetics

Florida Clinical Practice Association Inc

2000 Sw Archer Rd
 
Gainesville, FL 32610

Gustavo Maegawa is a Medical Genetics doctor in Gainesville, Florida. Dr. Maegawa has been practicing medicine for over 21 years and is rated as an Advanced doctor by MediFind in the treatment of Pompe Disease. He is also highly rated in 68 other conditions, according to our data. His top areas of expertise are Gaucher Disease Type 3, Gaucher Disease Type 2, Gaucher Disease Type 1, and Gaucher Disease. He is board certified in Medical Genetics And Genomics and licensed to treat patients in Maryland. Dr. Maegawa is currently accepting new patients.

Advanced
Pediatrics
Medical Genetics

University Of Cincinnati College Of Medicine

3333 Burnet Ave # Mlc4006
 
Cincinnati, OH 45229

Loren Pena is a Pediatrics specialist and a Medical Genetics doctor in Cincinnati, Ohio. Dr. Pena is rated as an Advanced doctor by MediFind in the treatment of Pompe Disease. She is also highly rated in 12 other conditions, according to our data. Her top areas of expertise are Propionic Acidemia, Pompe Disease, Hypotonia, and Increased Head Circumference. She is licensed to treat patients in North Carolina, Ohio, and Illinois. Dr. Pena is currently accepting new patients.

Advanced
Pediatrics
Medical Genetics

University Of Arkansas

1 Childrens Way
 
Little Rock, AR 72202

Thomas Burrow is a Pediatrics specialist and a Medical Genetics doctor in Little Rock, Arkansas. Dr. Burrow has been practicing medicine for over 18 years and is rated as an Advanced doctor by MediFind in the treatment of Pompe Disease. He is also highly rated in 53 other conditions, according to our data. His top areas of expertise are Gaucher Disease Type 1, Gaucher Disease, Gaucher Disease Type 2, and Splenomegaly. He is board certified in Pediatric Medicine and licensed to treat patients in Ohio and Arkansas. Dr. Burrow is currently accepting new patients.

Advanced
Pediatrics
Medical Genetics

Association Of University Physicians

1959 Ne Pacific St
 
Seattle, WA 98195

C Scott is a Pediatrics specialist and a Medical Genetics doctor in Seattle, Washington. Dr. Scott has been practicing medicine for over 62 years and is rated as an Advanced doctor by MediFind in the treatment of Pompe Disease. He is also highly rated in 54 other conditions, according to our data. His top areas of expertise are Fabry Disease, Megalencephalic Leukoencephalopathy with Subcortical Cysts, Multiple Sulfatase Deficiency, and SRD5A3-CDG. He is board certified in Pediatric Medicine and Medical Genetics And Genomics and licensed to treat patients in Washington. Dr. Scott is currently accepting new patients.

Advanced
Medical Genetics
Pediatrics
Pathology

Westchester Medical Center Advanced Physician Services PC

503 Grasslands Rd
 
Valhalla, NY 10595

David Kronn is a Medical Genetics specialist and a Pediatrics doctor in Valhalla, New York. Dr. Kronn has been practicing medicine for over 32 years and is rated as an Advanced doctor by MediFind in the treatment of Pompe Disease. He is also highly rated in 10 other conditions, according to our data. His top areas of expertise are Phenylketonuria, Maternal Hyperphenylalaninemia, Dihydropteridine Reductase Deficiency, and Pompe Disease. He is board certified in Medical Genetics And Genomics and Pediatric Medicine and licensed to treat patients in New York. Dr. Kronn is currently accepting new patients.

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What is the definition of Pompe Disease?

Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.

Researchers have described three types of Pompe disease, which differ in severity and the age at which they appear. These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset.

The classic form of infantile-onset Pompe disease begins within a few months of birth. Infants with this disorder typically experience muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart defects. Affected infants may also fail to gain weight and grow at the expected rate (failure to thrive) and have breathing problems. If untreated, this form of Pompe disease leads to death from heart failure in the first year of life.

The non-classic form of infantile-onset Pompe disease usually appears by age 1. It is characterized by delayed motor skills (such as rolling over and sitting) and progressive muscle weakness. The heart may be abnormally large (cardiomegaly), but affected individuals usually do not experience heart failure. The muscle weakness in this disorder leads to serious breathing problems, and most children with non-classic infantile-onset Pompe disease live only into early childhood.

The late-onset type of Pompe disease may not become apparent until later in childhood, adolescence, or adulthood. Late-onset Pompe disease is usually milder than the infantile-onset forms of this disorder and is less likely to involve the heart. Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.

Behind the Pompe Disease List

MediFind is the industry authority on identifying the leading medical experts and latest research in order to help patients facing complex health challenges, including Pompe Disease, make better health decisions. Leveraging our expertise in natural language processing and machine learning across thousands of diseases, we uncover physicians who are leading authorities on Pompe Disease. MediFind identifies these experts using proprietary world-class models that assess over 2.5 million global doctors based on a range of variables, including research leadership, patient volume, peer standing, and connectedness to other experts. Learn more about our methodology by exploring how MediFind works.