Laura Baroncelli practices in Pisa, Italy. Ms. Baroncelli is rated as an Elite expert by MediFind in the treatment of X-Linked Creatine Deficiency. Her top areas of expertise are X-Linked Creatine Deficiency, Amblyopia, Seizures, and Autism Spectrum Disorder.

Tommaso Pizzorusso practices in Pisa, Italy. Mr. Pizzorusso is rated as an Elite expert by MediFind in the treatment of X-Linked Creatine Deficiency. His top areas of expertise are X-Linked Creatine Deficiency, CDKL5 Deficiency Disorder, Rett Syndrome, and West Syndrome.

Giulia Sagona practices in Pisa, Italy. Ms. Sagona is rated as an Elite expert by MediFind in the treatment of X-Linked Creatine Deficiency. Her top areas of expertise are X-Linked Creatine Deficiency, CDKL5 Deficiency Disorder, West Syndrome, and Spasmus Nutans.

Aloise Mabondzo practices in Gif-sur-yvette, France. Ms. Mabondzo is rated as an Elite expert by MediFind in the treatment of X-Linked Creatine Deficiency. Her top areas of expertise are X-Linked Creatine Deficiency, Glucose Transporter Deficiency, Metastatic Brain Tumor, and Alzheimer's Disease.

Saadet Andrews-Mercimek practices in Edmonton, Canada. Andrews-Mercimek is rated as an Elite expert by MediFind in the treatment of X-Linked Creatine Deficiency. Their top areas of expertise are X-Linked Creatine Deficiency, Guanidinoacetate Methyltransferase Deficiency, Succinic Semialdehyde Dehydrogenase Deficiency, and PGM1-CDG.

Simona Bianconi is a Pediatrics specialist and a Medical Genetics provider in San Diego, California. Dr. Bianconi is rated as an Elite provider by MediFind in the treatment of X-Linked Creatine Deficiency. Her top areas of expertise are 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. His top areas of expertise are Pompe Disease, Von Gierke Disease, X-Linked Creatine Deficiency, and Kearns-Sayre Syndrome.

Alan Schneider is a Cardiologist in Lexington, Missouri. Dr. Schneider is rated as an Experienced provider by MediFind in the treatment of X-Linked Creatine Deficiency. His top areas of expertise are Pediatric Myocarditis, Aortic Regurgitation, Necrosis, and Atherosclerosis. Dr. Schneider is currently accepting new patients.

Paul Nager is a Cardiologist and an Interventional Cardiologist in Kansas City, Missouri. Dr. Nager is rated as an Experienced provider by MediFind in the treatment of X-Linked Creatine Deficiency. His top areas of expertise are Pediatric Myocarditis, Arrhythmias, Necrosis, Pacemaker Implantation, and Cardiac Ablation. Dr. Nager is currently accepting new patients.

Luca Bartolini is a Pediatric Neurologist in Providence, Rhode Island. Dr. Bartolini is rated as an Experienced provider by MediFind in the treatment of X-Linked Creatine Deficiency. His top areas of expertise are Epilepsy, Genetic Epilepsy with Febrile Seizures Plus (GEFS+), Rasmussen Encephalitis, and Seizures.

Elena Putignano practices in Pisa, Italy. Ms. Putignano is rated as a Distinguished expert by MediFind in the treatment of X-Linked Creatine Deficiency. Her top areas of expertise are X-Linked Creatine Deficiency, CDKL5 Deficiency Disorder, West Syndrome, and Spasmus Nutans.

Matthew Skelton is a Hematologist Oncology specialist and an Oncologist in Roanoke, Virginia. Dr. Skelton is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. His top areas of expertise are 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 in Bethesda, Maryland. Dr. Porter is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. His top areas of expertise are Smith-Lemli-Opitz Syndrome, Niemann-Pick Disease, Reticulohistiocytoma, and X-Linked Creatine Deficiency.

Enrico Adriano practices in Genoa, Italy. Mr. Adriano is rated as a Distinguished expert by MediFind in the treatment of X-Linked Creatine Deficiency. His top areas of expertise are X-Linked Creatine Deficiency, Guanidinoacetate Methyltransferase Deficiency, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, and Amaurosis Fugax.

Jiddeke Van De Kamp practices in Amsterdam, Netherlands. Van De Kamp is rated as a Distinguished expert by MediFind in the treatment of X-Linked Creatine Deficiency. Their top areas of expertise are X-Linked Creatine Deficiency, Corneal Dystrophy and Perceptive Deafness, Micrognathia, and West Syndrome.

Andreas Schulze practices in Toronto, Canada. Mr. Schulze is rated as a Distinguished expert by MediFind in the treatment of X-Linked Creatine Deficiency. His top areas of expertise are Guanidinoacetate Methyltransferase Deficiency, Urea Cycle Disorders (UCD), Arginase Deficiency, and X-Linked Creatine Deficiency.

Caterina Montani practices in Rovereto, Italy. Ms. Montani is rated as a Distinguished expert by MediFind in the treatment of X-Linked Creatine Deficiency. Her top areas of expertise are X-Linked Creatine Deficiency, DiGeorge Syndrome, Hypoparathyroidism, and Autism Spectrum Disorder.

Medina Yasin is a Nurse Practitioner in Port Saint Lucie, Florida. Ms. Yasin is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. Her top areas of expertise are X-Linked Creatine Deficiency, Succinic Semialdehyde Dehydrogenase Deficiency, GABA-Transaminase Deficiency, and Malonyl-CoA Decarboxylase Deficiency.

Giovanni Cioni practices in Ferrara, Italy. Mr. Cioni is rated as a Distinguished expert by MediFind in the treatment of X-Linked Creatine Deficiency. His top areas of expertise are Cerebral Palsy, Periventricular Leukomalacia, Hemiplegia, and Alternating Hemiplegia of Childhood.

Takahito Wada practices in Kyoto, Japan. Wada is rated as a Distinguished expert by MediFind in the treatment of X-Linked Creatine Deficiency. Their top areas of expertise are Alpha Thalassemia X-Linked Intellectual Disability Syndrome, Alpha Thalassemia, X-Linked Creatine Deficiency, and Leukemoid Reaction.