The 20 Best X-Linked Creatine Deficiency Doctors in The United States

Simona Bianconi is a Pediatrics specialist and a Medical Genetics provider practicing medicine in San Diego, California. Dr. Bianconi is rated as an Elite provider by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Smith-Lemli-Opitz Syndrome, X-Linked Creatine Deficiency, Niemann-Pick Disease, and Reticulohistiocytoma. Dr. Bianconi 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 a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Von Gierke Disease, X-Linked Creatine Deficiency, and Kearns-Sayre Syndrome. Dr. Koeberl is board certified in American Board Of Medical Genetics, Clinical Biochemical Genetics , American Board Of Medical Genetics, Clinical Genetics And Genomics - General , and American Board Of Pediatrics, General Pediatrics.

Samar Rahhal is a Pediatric Endocrinologist practicing medicine in Indianapolis, Indiana. Dr. Rahhal is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Smith-Lemli-Opitz Syndrome, X-Linked Creatine Deficiency, Autism Spectrum Disorder, and Niemann-Pick Disease.

Matthew Skelton is a Hematologist practicing medicine in Roanoke, Virginia. Dr. Skelton is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 76 other conditions, according to our data. His clinical expertise encompasses X-Linked Creatine Deficiency, Neuroendocrine Tumor, Lung Cancer, Pleuropulmonary Blastoma, and Bone Marrow Aspiration. Dr. Skelton is currently accepting new patients.

Forbes Porter is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Bethesda, Maryland. Dr. Porter is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Smith-Lemli-Opitz Syndrome, Niemann-Pick Disease, Reticulohistiocytoma, and X-Linked Creatine Deficiency.

Medina Yasin is a Nurse Practitioner practicing medicine in Port Saint Lucie, Florida. Ms. Yasin is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses X-Linked Creatine Deficiency, GABA-Transaminase Deficiency, Succinic Semialdehyde Dehydrogenase Deficiency, and Malonyl-CoA Decarboxylase Deficiency.

Irina Anselm is a Pediatric Neurologist practicing medicine in Boston, Massachusetts. Dr. Anselm is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses X-Linked Creatine Deficiency, Kearns-Sayre Syndrome, Mitochondrial Neurogastrointestinal Encephalopathy Disease, and MELAS Syndrome.

Melanie Brandabur is a Neurologist practicing medicine in Hoffman Estates, Illinois. Dr. Brandabur is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses X-Linked Creatine Deficiency, Movement Disorders, Epilepsy Juvenile Absence, and Parkinson's Disease.

Vernon Sutton is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Austin, Texas. Dr. Sutton is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 31 other conditions, according to our data. His clinical expertise encompasses Osteogenesis Imperfecta, Genital Dwarfism, Robinow Syndrome, and 2q37 Deletion Syndrome. Dr. Sutton is currently accepting new patients.

Gerald Lipshutz is a General Surgeon practicing medicine in Los Angeles, California. Dr. Lipshutz is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), X-Linked Creatine Deficiency, End-Stage Renal Disease (ESRD), Kidney Transplant, and Simultaneous Pancreas Kidney Transplant.

Can Ficicioglu is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Ficicioglu is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 51 other conditions, according to our data. His clinical expertise encompasses Classic Galactosemia, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Urea Cycle Disorders (UCD), and Homocystinuria.

Shirley Ice is a primary care provider, practicing in Family Medicine in Belleview, Florida. Dr. Ice is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 68 other conditions, according to our data. Her clinical expertise encompasses Glucocorticoid-Remediable Aldosteronism, Hypertension, Familial Hypertension, and Bronchitis. Dr. Ice is currently accepting new patients.

Lance Sloan is an Internal Medicine provider practicing medicine in Lufkin, Texas. Dr. Sloan is rated as an Advanced provider by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 50 other conditions, according to our data. His clinical expertise encompasses Type 2 Diabetes (T2D), Hypothyroidism, Obesity in Children, and Acute Kidney Failure.

Ahmad Chami is a Cardiologist practicing medicine in Jacksonville,, Florida. Dr. Chami is rated as an Advanced provider by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 40 other conditions, according to our data. His clinical expertise encompasses Necrosis, Hypertensive Heart Disease, Pediatric Myocarditis, and Mitral Valve Regurgitation.

Richard Chang is a Medical Genetics provider practicing medicine in Orange, California. Dr. Chang is rated as an Advanced provider by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 156 other conditions, according to our data. His clinical expertise encompasses Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Arginase Deficiency, and Urea Cycle Disorders (UCD). Dr. Chang is currently accepting new patients.

Julian Espiritu is an Internal Medicine provider practicing medicine in South Charleston, West Virginia. Dr. Espiritu is rated as an Advanced provider by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses Chronic Kidney Disease, Magnesium Deficiency, Vitamin D Deficiency, and Gitelman Syndrome. Dr. Espiritu is currently accepting new patients.

Laura Mackay is a Medical Genetics provider practicing medicine in Dallas, Texas. Dr. Mackay is rated as an Advanced provider by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 132 other conditions, according to our data. Her clinical expertise encompasses Isovaleric Acidemia, Beta-Ketothiolase Deficiency, Biotinidase Deficiency, and Adrenoleukodystrophy (ALD).

Phillip Pearl is a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Pearl is rated as an Advanced provider by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 41 other conditions, according to our data. His clinical expertise encompasses Succinic Semialdehyde Dehydrogenase Deficiency, Epilepsy, Epilepsy in Children, and Seizures. Dr. Pearl is board certified in Pediatrics, Neurology With Special Qualifications In Child Neurology, Clinical Neurophysiology, Neurodevelopmental Disabilities, and Epilepsy.

Aram Kim is a Pediatric Neurologist practicing medicine in Orange, California. Dr. Kim is rated as an Advanced provider by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Autism Spectrum Disorder, Adrenoleukodystrophy (ALD), X-Linked Creatine Deficiency, and GABA-Transaminase Deficiency. Dr. Kim is currently accepting new patients.

Deborah Bilder is a Psychiatrist practicing medicine in South Salt Lake, Utah. She has been practicing medicine for over 28 years. Dr. Bilder is rated as an Advanced provider by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Autism Spectrum Disorder, West Syndrome, and X-Linked Creatine Deficiency. Dr. Bilder is board certified in American Board Of Psychiatry And Neurology and American Board Of Psychiatry And Neurology.