The 20 Best Fabry Disease Doctors Near Me

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 Elite provider by MediFind in the treatment of Fabry 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.

Perry Elliott practices practicing medicine in London, United Kingdom. Mr. Elliott is rated as an Elite expert by MediFind in the treatment of Fabry Disease. He is also highly rated in 28 other conditions, according to our data. His clinical expertise encompasses Cardiomyopathy, Hypertrophic Cardiomyopathy (HCM), Familial Hypertrophic Cardiomyopathy, Heart Transplant, and Cardiac Ablation.

Christoph Wanner practices practicing medicine in Wuerzburg, Germany. Mr. Wanner is rated as an Elite expert by MediFind in the treatment of Fabry Disease. He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses Fabry Disease, Type 2 Diabetes (T2D), Chronic Kidney Disease, Heart Failure, and Kidney Transplant.

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 Fabry 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.

Roberto Giugliani practices practicing medicine in Porto Alegre, Brazil. Mr. Giugliani is rated as an Elite expert by MediFind in the treatment of Fabry Disease. He is also highly rated in 39 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Acid Sphingomyelinase Deficiency (ASMD), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), and Bone Marrow Transplant.

Olivier Benveniste practices practicing medicine in Paris, France. Mr. Benveniste is rated as an Elite expert by MediFind in the treatment of Fabry Disease. He is also highly rated in 18 other conditions, according to our data. His clinical expertise encompasses Myositis, Necrotizing Myopathy (NM), Antisynthetase Syndrome, Inclusion Body Myositis, and Kidney Transplant.

Pilar Giraldo practices practicing medicine in Zaragoza, Spain. Giraldo is rated as an Elite expert by MediFind in the treatment of Fabry Disease. They are also highly rated in 22 other conditions, according to our data. Their clinical expertise encompasses Gaucher Disease Type 1, Gaucher Disease, Farber Lipogranulomatosis, Fabry Disease, and Splenectomy.

Ozlem Goker is a primary care provider, practicing in Pediatrics in Fairfax, Virginia. Dr. Goker is rated as an Elite provider by MediFind in the treatment of Fabry Disease. She is also highly rated in 15 other conditions, according to our data. Her clinical expertise encompasses Gaucher Disease, Fabry Disease, Gaucher Disease Type 1, and Pompe Disease.

Nathalie Guffon practices practicing medicine in Bron, France. Ms. Guffon is rated as an Elite expert by MediFind in the treatment of Fabry Disease. She is also highly rated in 16 other conditions, according to our data. Her clinical expertise encompasses Alpha Mannosidosis, Acid Sphingomyelinase Deficiency (ASMD), Mucopolysaccharidoses (MPS), and Niemann-Pick Disease.

Ulla Rasmussen-Feldt practices practicing medicine in Copenhagen, Denmark. Ms. Rasmussen-Feldt is rated as an Elite expert by MediFind in the treatment of Fabry Disease. She is also highly rated in 37 other conditions, according to our data. Her clinical expertise encompasses Addison's Disease, Hypopituitarism, Hypothyroidism, Hormone Replacement Therapy (HRT), and Thyroidectomy.

Joel Charrow is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Chicago, Illinois. Dr. Charrow is rated as an Elite provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 45 other conditions, according to our data. His clinical expertise encompasses Gaucher Disease Type 1, Gaucher Disease, Achondroplasia, Isovaleric Acidemia, and Splenectomy.

Robert Hopkin is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Cincinnati, Ohio. Dr. Hopkin is rated as an Elite provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 207 other conditions, according to our data. His clinical expertise encompasses Fabry Disease, Neurofibromatosis Type 1 (NF1), Neurofibromatosis, Microcephaly, and Orchiectomy.

Frederic Vaz practices practicing medicine in Amsterdam, Netherlands. Mr. Vaz is rated as an Elite expert by MediFind in the treatment of Fabry Disease. He is also highly rated in 18 other conditions, according to our data. His clinical expertise encompasses Barth Syndrome, Primary Carnitine Deficiency, Cerebrotendinous Xanthomatosis, Xanthoma, and Laryngectomy.

Robin Lachmann practices practicing medicine in London, United Kingdom. Lachmann is rated as an Elite expert by MediFind in the treatment of Fabry Disease. They are also highly rated in 20 other conditions, according to our data. Their clinical expertise encompasses Acid Sphingomyelinase Deficiency (ASMD), Niemann-Pick Disease, Fabry Disease, X-Linked Hypophosphatemia, and Osteotomy.

Alberto Ortiz practices practicing medicine in Palma, Spain. Mr. Ortiz is rated as an Elite expert by MediFind in the treatment of Fabry Disease. He is also highly rated in 37 other conditions, according to our data. His clinical expertise encompasses Fabry Disease, Diabetic Nephropathy, Hypertension, Kidney Transplant, and Thrombectomy.

Rossella Parini practices practicing medicine in Milan, Italy. Ms. Parini is rated as an Elite expert by MediFind in the treatment of Fabry Disease. She is also highly rated in 17 other conditions, according to our data. Her clinical expertise encompasses Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), Brachydactyly Mononen Type, and Bone Marrow Transplant.

Neal Weinreb is a Hematologist practicing medicine in Coral Springs, Florida. Dr. Weinreb is rated as an Elite provider by MediFind in the treatment of Fabry Disease. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Gaucher Disease Type 1, Gaucher Disease, Farber Lipogranulomatosis, Gaucher Disease Type 3, and Splenectomy.

Carla Hollak practices practicing medicine in Amsterdam, Netherlands. Ms. Hollak is rated as an Elite expert by MediFind in the treatment of Fabry Disease. She is also highly rated in 27 other conditions, according to our data. Her clinical expertise encompasses Acid Sphingomyelinase Deficiency (ASMD), Gaucher Disease Type 1, Niemann-Pick Disease, Classic Galactosemia, and Splenectomy.

Didier Lacombe practices practicing medicine in Bordeaux, France. Mr. Lacombe is rated as an Elite expert by MediFind in the treatment of Fabry Disease. He is also highly rated in 49 other conditions, according to our data. His clinical expertise encompasses Floating-Harbor Syndrome, Rubinstein-Taybi Syndrome, Kabuki Syndrome, Acromicric Dysplasia, and Kidney Transplant.

Derralynn Hughes practices practicing medicine in London, United Kingdom. Hughes is rated as an Elite expert by MediFind in the treatment of Fabry Disease. They are also highly rated in 11 other conditions, according to our data. Their clinical expertise encompasses Fabry Disease, Gaucher Disease, Gaucher Disease Type 1, Splenectomy, and Pacemaker Implantation.