The 20 Best Pyle Disease Doctors in The United States

Dr. Eric J. Vilain is a board-certified UCI Health pediatrician who specializes in genetic and genomic medicine.Vilain serves as associate vice chancellor for clinical and translational research and scientific affairs for the Susan and Henry Samueli College of Health Sciences and director of the Institute for Clinical and Translational Sciences at UC Irvine.He received his medical degree at the Faculté de Médecine Paris-Descartes and a doctor of Philosophy degree in genetics from the Université Pierre-et-Marie-Curie in Paris, France. Next. he completed residencies in general pediatrics and pediatric endocrinology at the Necker-Enfants Malades Hospital, followed by a residency in pediatric medical genetics and a fellowship at clinical biochemical genetics at the David Geffen School of Medicine at UCLA, where he went on to serve as a faculty member, physician and prolific genetics researcher for two decades.Before joining the UCI School of Medicine and the College of Health Sciences, he most recently worked at the Children's National Medical Center in Washington, D.C., where he served as director of the Center for Genetic Medicine Research and was the A. James Clark Distinguished Professor of Molecular Genetics.Vilain's clinical and research emphasis has long been on differences of sex development and medical genetics.He sees patients atUCI Medical Centerin Orange. Dr. Vilain is rated as an Elite provider by MediFind in the treatment of Pyle Disease. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Pyle Disease, Intersex, Beckwith-Wiedemann Syndrome, Hypospadias, and Orchiectomy. Dr. Vilain is board certified in American Board Of Medical Genetics And Genomics - Clinical Genetics And Genomics.

Dr. Mark S. Anderson is an endocrinologist who cares for adult patients with type 1 diabetes or other autoimmune endocrine diseases. In his research, Anderson focuses on the genetic and molecular underpinnings of such autoimmune diseases as type 1 diabetes and Hashimoto's disease. His lab group has a particular interest in how T cells – white blood cells that mature in the thymus gland and play an important role in immune response – can provoke autoimmunity. After earning a doctorate in immunology from the Pritzker School of Medicine at the University of Chicago, Anderson completed his medical degree there. He completed a residency in internal medicine at University of Minnesota Health and a fellowship in endocrinology at Massachusetts General Hospital. Anderson is a member of the American Diabetes Association, American Association of Immunologists, Association for Research in Vision and Ophthalmology, Endocrine Society, American Society for Clinical Investigation, Federation of Clinical Immunology Societies and Association of American Physicians. He serves on the advisory committee for Pathway to Stop Diabetes, a program to support diabetes researchers initiated by the American Diabetes Association. Dr. Anderson is rated as a Distinguished provider by MediFind in the treatment of Pyle Disease. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), Autoimmune Polyglandular Syndrome Type 2, Pyle Disease, and Type 1 Diabetes (T1D). Dr. Anderson is board certified in American Board Of Internal Medicine, Endocrinology Diabetes & Metab. Dr. Anderson is currently accepting new patients.

Hitesh Shah is a Nephrologist practicing medicine in Great Neck, New York. Dr. Shah is rated as a Distinguished provider by MediFind in the treatment of Pyle Disease. He is also highly rated in 19 other conditions, according to our data. His clinical expertise encompasses Acute Tubular Necrosis, Absence of Tibia, Cartilage-Hair Hypoplasia, Osteotomy, and Nerve Decompression. Dr. Shah is board certified in American Board Of Internal Medicine/Nephrology.

Jean-laurent Casanova is a Pediatrics provider practicing medicine in New York, New York. Dr. Casanova is rated as a Distinguished provider by MediFind in the treatment of Pyle Disease. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Multisystem Inflammatory Syndrome in Children (MIS-C), Pyle Disease, Pulmonary Alveolar Proteinosis, Osteomyelitis in Children, and Lymphadenectomy.

Both of my parents were in the medical field and strongly influenced the direction of my career. I became a physical therapist, which I enjoyed immensely, but I thought I could make a different contribution to patient care by becoming a physician. In radiology, we are part of the medical team that helps diagnose or exclude an illness and we help to direct the course of our patient’s treatment. Working with children is an amazing experience. Kids are so resilient and bounce back from all types of difficult situations. They each have such a unique perspective and we try our best to tailor our interactive imaging procedures to the child. Sometimes this involves providing anatomy lessons to teen patients, other times it involves just “getting it over with.” We aim to make our imaging procedures as interesting and as comfortable as possible. My areas of interest include: Pediatric Body Imaging  Fetal Imaging Child Abuse I try to provide the most accurate information based on our imaging studies to the patient’s medical team so that the child can be treated as quickly as possible. I am fortunate to work with an incredible group of medical practitioners at Nemours/Alfred I. duPont Hospital for Children who share my passion to provide the highest quality medical care to all children. Dr. Harty is rated as an Advanced provider by MediFind in the treatment of Pyle Disease. She is also highly rated in 52 other conditions, according to our data. Her clinical expertise encompasses X-Linked Spondyloepiphyseal Dysplasia Tarda, Kniest Dysplasia, Spondyloepiphyseal Dysplasia Congenita, and Weissenbacher-Zweymuller Syndrome. Dr. Harty is board certified in American Board Of Radiology.

Michael Moore is a Pediatric Radiologist and a Radiologist practicing medicine in Wilmington, Delaware. He has been practicing medicine for over 22 years. Dr. Moore is rated as an Advanced provider by MediFind in the treatment of Pyle Disease. He is also highly rated in 86 other conditions, according to our data. His clinical expertise encompasses Spondylocarpotarsal Synostosis Syndrome, Caudal Regression Syndrome, Scoliosis, and Hypochondroplasia. Dr. Moore is board certified in American Board Of Radiology.

Stanley Nelson is a Pediatrics provider practicing medicine in Los Angeles, California. Dr. Nelson is rated as a Distinguished provider by MediFind in the treatment of Pyle Disease. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Pyle Disease, Microcephaly, Achalasia Microcephaly Syndrome, and Hypotonia.

Andrew Phelps is a Pediatric Radiologist practicing medicine in Portland, Oregon. Dr. Phelps is rated as an Advanced provider by MediFind in the treatment of Pyle Disease. He is also highly rated in 77 other conditions, according to our data. His clinical expertise encompasses Scoliosis, Kyphomelic Dysplasia, Pycnodysostosis, and Multicentric Carpotarsal Osteolysis Syndrome.

Aaron Libolt is a Physician Assistant practicing medicine in Maple Valley, Washington. Libolt, PA is rated as an Advanced provider by MediFind in the treatment of Pyle Disease. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Pyle Disease, Frontometaphyseal Dysplasia, Camurati-Engelmann Disease, and Ribbing Disease. Libolt, PA is currently accepting new patients.

Perrin White is a Pediatric Endocrinologist and a Pediatrics provider practicing medicine in Dallas, Texas. Dr. White is rated as an Advanced provider by MediFind in the treatment of Pyle Disease. He is also highly rated in 17 other conditions, according to our data. His clinical expertise encompasses Congenital Adrenal Hyperplasia (CAH), Intersex, Type 1 Diabetes (T1D), Diabetic Ketoacidosis, and Hormone Replacement Therapy (HRT).

Christopher Makarewich is an Orthopedics provider practicing medicine in Riverton, Utah. Dr. Makarewich is rated as an Experienced provider by MediFind in the treatment of Pyle Disease. He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses Knock Knees, Osteogenesis Imperfecta, Achondroplasia, Osteotomy, and Tenotomy. Dr. Makarewich is board certified in American Board Of Orthopaedic Surgery. Dr. Makarewich is currently accepting new patients.

After graduating from Tehran University of Medical Sciences in 1990, Dr. Sohrab spent time in Spinal Cord Injury Centers of Iran, in multiple capacities, organizing care and educating different levels of practitioners in providing care for veterans of war. He then spent a few years of general practice, in different parts of Iran, dedicated to providing medical care and organizing Public Health Services, in rural areas. Dr. Sohrab has been practicing, and teaching, general Neurology at the University of Michigan, since 2012. Dr. Sohrab is rated as an Experienced provider by MediFind in the treatment of Pyle Disease. He is also highly rated in 25 other conditions, according to our data. His clinical expertise encompasses Migraine, Vertigo, Migraine with Brainstem Aura, and Trigeminal Neuralgia.

Wei Wang is a Psychiatrist practicing medicine in Flemington, New Jersey. Dr. Wang is rated as an Experienced provider by MediFind in the treatment of Pyle Disease. She is also highly rated in 84 other conditions, according to our data. Her clinical expertise encompasses Gallbladder Disease, Ocular Hypertension (OHT), Dementia, Endoscopy, and Bone Marrow Aspiration. Dr. Wang is currently accepting new patients.

Dr. Schiffmann is a renowned expert on neurometabolic diseases. He earned his medical degree from the University of Liège, Belgium and a Master of Health Sciences in Clinical Research from Duke University. He is board-certified in Neurology with a Special Qualification in Child Neurology and is a Fellow of the American Academy of Neurology. Dr. Schiffmann was a lead researcher at the United States National Institutes of Health in Bethesda, Maryland for over 17 years (1991-2007) and then the Director of the Institute of Metabolic Disease at the Baylor Scott & White Research Institute in Dallas, Texas, 2008-2019. Dr. Schiffmann is a Professor in the Department of Internal Medicine, Texas Christian University and a Clinical Professor, Texas A&M University Medical School College of Medicine. He is also a Senior Vice President for Clinical Research at 4D Molecular Therapeutics. Dr. Schiffmann has been performing pre-clinical and clinical research on lysosomal storage diseases since 1991 with a special focus on the natural history, pathogenesis and therapy of Fabry disease, Gaucher disease and the leukodystrophies. One of his particular interests and areas of expertise is to address patients with undiagnosed neurological diseases. Dr. Schiffmann has published 276 peer-reviewed research articles and over 15 book chapters. Dr. Schiffmann is rated as an Experienced provider by MediFind in the treatment of Pyle Disease. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Gaucher Disease Type 3, Fabry Disease, Gaucher Disease, and Leukodystrophy. Dr. Schiffmann is board certified in Neurology With Special Qualification In Child Neurology- American Board Of Psychiatry And Neurology/Neurology With Special Qualification In Child Neurology and Neurology With Special Qualification In Child Neurology- American Board Of Psychiatry And Neurology.

I treat children with cancer and blood disorders, such as anemia and sickle cell disease. When families come in, there is understandably a huge amount of anxiety. I try to spend a lot of time with them and discuss what we know, what we need to find out, and how we plan to care for their children. My goal is to make it the least scary as possible for both the children and the parents/caregivers while providing the best care. Even in the setting of severe illness, interacting with children is uplifting and extremely rewarding. Children truly demonstrate the resilience of the human spirit. What I love most about my job is having relationships with children and seeing them grow; it is a wonderful experience. Dr. Rothman is rated as an Experienced provider by MediFind in the treatment of Pyle Disease. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Pyruvate Kinase Deficiency, Anemia, Hemolytic Anemia, Splenectomy, and Bone Marrow Transplant. Dr. Rothman is board certified in American Board Of Pediatrics, Pediatric Hematology-Oncology.

Leslie Castelo-Soccio, MD, PhD, is a dermatologist at Children's National Hospital and professor of Pediatrics and Dermatology at the George Washington University School of Medicine and Health Sciences. She is an expert in hair disorders most notably alopecia areata as well as other autoimmune skin diseases. Her interests and expertise include hair, genetic skin disorders, neonatal dermatology, inflammatory skin diseases such as eczema/atopic dermatitis and psoriasis, pigmented lesions (moles), acne and vascular disorders. She is an expert in laser and surgical treatment for pediatric patients and provides services in the clinic and operating room. Dr. Castelo-Soccio has built a research career in alopecia and inflammatory skin disease and runs clinical trials on these diseases at Children's National. Dr. Castelo-Soccio has published extensively including peer-reviewed articles and book chapters on pediatric and medical dermatology. She is a national and international speaker on hair disorders and autoimmune skin disease. She is a member of the board of directors of the American Hair Research Association and has worked closely as a volunteer for the National Alopecia Areata Foundation and the Pediatric Dermatology Research Alliance. Dr. Castelo-Soccio received her bachelor's degree with honors in biological sciences from Harvard University and her MD and PhD from Cornell University - Weill Medical College. She completed residency training in dermatology at the University of Pennsylvania and her fellowship training in pediatric dermatology at the Children's Hospital of Philadelphia. She is board certified in dermatology and pediatric dermatology. From 2011-2021 she was an attending physician at Children's Hospital of Philadelphia. From 2021-2025 she was an attending physician and researcher at the National Institutes of Health, where she still serves as a special volunteer. Dr. Castelo is rated as an Experienced provider by MediFind in the treatment of Pyle Disease. She is also highly rated in 28 other conditions, according to our data. Her clinical expertise encompasses Autosomal Recessive Hypotrichosis, Alopecia Areata, Lamellar Ichthyosis, and Nonbullous Congenital Ichthyosiform Erythroderma. Dr. Castelo is board certified in American Board Of Dermatology, 2012 and Dermatology: American Board Of Dermatology, 2009.

I was born in India to a family of doctors, so I did not have to look far for inspiration. I’m married to a pediatric cardiologist, also with duPont Hospital for Children, and I’m grateful for the opportunities I have every day to improve lives for kids and their families. As a father and surgeon, I have a soft spot for helping children in any way I can. It’s a privilege to be able to improve their lives even if there are challenges. I love to see kids getting back to enjoying life to its fullest and being able to help people deal with difficult issues. One of my proudest professional moments was the day I walked into the operating room and had the privilege to start surgically caring for children. I’m still passionate about my work and the opportunities I have every day to improve the lives of kids, one child at a time. The children I treat have serious medical problems, and it takes a whole team of professionals, working in lots of related medical and sociological fields, to make a difference in their lives, and the lives of their families. It’s an honor to be part of that team. At the end of the day, it’s all about the kids. Dr. Thacker is rated as an Experienced provider by MediFind in the treatment of Pyle Disease. She is also highly rated in 65 other conditions, according to our data. Her clinical expertise encompasses Osteochondroma, Knock Knees, Hereditary Multiple Osteochondromas, Chondroblastoma, and Osteotomy. Dr. Thacker is board certified in American Board Of Orthopaedic Surgery.

Dr. Zoe Quandt is an endocrinologist caring for patients who develop hormonal side effects from their cancer treatment, especially from immunotherapy (treatments that stimulate the immune system). She works with patients so they can continue critical cancer treatments while optimizing their quality of life. She is also leading efforts to expand treatment options for patients with early-stage type 1 diabetes. Quandt's research mirrors her work with patients. Her research goals include predicting who will develop endocrine side effects (such as thyroid dysfunction, pituitary disfunction and diabetes) from cancer therapy, understanding why these side effects happen, and determining what they mean for the cancer treatment as well as what can be done to address them. She also studies how these immune-triggered side effects relate to spontaneous autoimmune endocrine disease. This research, which guides her patient care on a daily basis, has received funding from the National Institutes of Health, American Diabetes Association, Larry L. Hillblom Foundation and Parker Institute for Cancer Immunotherapy. Additionally, she is one of the leaders of the UCSF Endocrine Clinical and Translational Research Center. Quandt earned her medical degree at UCSF. She completed a residency in internal medicine at Stanford Medicine, followed by a fellowship in diabetes, endocrinology and metabolism at UCSF. In her free time, Quandt is often chasing after her two young kids and small dog in a variety of outdoor settings. She is a lover of database creation, particularly for making restaurant reservations while vacation planning. Dr. Quandt is rated as an Experienced provider by MediFind in the treatment of Pyle Disease. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Addison's Disease, Secondary Adrenal Insufficiency, Pituitary Apoplexy, and Rathke Cleft Cyst. Dr. Quandt is board certified in American Board Of Internal Medicine, Endocrinology Diabetes & Metab and American Board Of Internal Medicine, Internal Medicine. Dr. Quandt is currently accepting new patients.

William Mackenzie is an Orthopedics provider practicing medicine in Wilmington, Delaware. He has been practicing medicine for over 3 years. Dr. Mackenzie is rated as an Advanced provider by MediFind in the treatment of Pyle Disease. He is also highly rated in 67 other conditions, according to our data. His clinical expertise encompasses Multiple Synostoses Syndrome 1, Fibrochondrogenesis, Myhre Syndrome, and Dyggve-Melchior-Clausen Syndrome. Dr. Mackenzie is board certified in American Board Of Orthopaedic Surgery.

I grew up in China’s Hunan province as an active, athletic child. My mom was a physician and my dad was a medical school professor, so I had great role models. Today I’m a radiologist focusing on pediatric musculoskeletal and body imaging, with concentration on X-rays, MRIs, CT scans, ultrasound, and fluoroscopy (how things move inside the body). I am certified in diagnostic radiology and subspecialized in pediatric radiology by the American Board of Radiology. I have been working over 17 years, and remain an active member of the Radiological Society of North America and Society of Pediatric Radiology. I really like kids, and I’m glad to help whenever I can. I work closely with clinical teams to help make sure each child’s diagnosis is correct. I enjoy sharing my expertise with other physicians and learning from them. It’s great to get an understanding of how they approach a diagnosis. I think everyone should have access to quality healthcare. Nemours does because we treat all children regardless of their ability to pay. That’s important to me. I have a passion to be part of excellent medical care for children and do my best to provide the best services possible for each child. I believe in working as a team with the medical associates, patients and families to provide compassionate and high-quality care. My medical interest include: Ultrasound  Musculoskeletal imaging I will keep learning to improve my services with updated knowledge and advanced technique, and ensure each child receives the best care possible. Dr. Guo is rated as an Advanced provider by MediFind in the treatment of Pyle Disease. She is also highly rated in 84 other conditions, according to our data. Her clinical expertise encompasses Caudal Regression Syndrome, Spondylocarpotarsal Synostosis Syndrome, Diastrophic Dysplasia, and Atelosteogenesis Type 2. Dr. Guo is board certified in American Board Of Radiology.