The 20 Best Mitochondrial Trifunctional Protein Deficiency Doctors in Pennsylvania, US

. Dr. Arnold is rated as a Distinguished provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. Her top areas of expertise are Phenylketonuria (PKU), Mitochondrial Trifunctional Protein Deficiency, Krabbe Disease, and Inborn Amino Acid Metabolism Disorder.

Jose' Sahel is an Ophthalmologist in Pittsburgh, Pennsylvania. Dr. Sahel is rated as an Advanced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. His top areas of expertise are Retinopathy Pigmentary Mental Retardation, Cone-Rod Dystrophy, X-Linked Congenital Stationary Night Blindness, Retinitis Pigmentosa, and Vitrectomy. Dr. Sahel is currently accepting new patients.

Anjali Owens is a Cardiologist in Philadelphia, Pennsylvania. Dr. Owens is rated as an Advanced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. Her top areas of expertise are Cardiomyopathy, Hypertrophic Cardiomyopathy (HCM), Familial Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy (DCM), and Heart Transplant. Dr. Owens is currently accepting new patients.

. Dr. Brooks is rated as an Experienced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. Her top areas of expertise are Mitochondrial Trifunctional Protein Deficiency, Cerebral Hypoxia, Ciliary Dyskinesia-Bronchiectasis, and Primary Ciliary Dyskinesia (PCD).

Colin Quinn is a Neurologist in Philadelphia, Pennsylvania. Dr. Quinn is rated as an Advanced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. His top areas of expertise are Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, Inclusion Body Myositis, Progressive Hemifacial Atrophy, and Gastrostomy. Dr. Quinn is currently accepting new patients.

RaeLynn Forsyth, MD, specializes in medical genetics as well as pediatric genetics and genomics and is board-certified by the American Board of Pediatrics and the American Board of Medical Genetics and Genomics. She practices at Medical Genetics Metabolic in Lawrenceville, Medical Genetics in Lawrenceville, and Medical Genetics in Erie and is affiliated with UPMC Hamot, UPMC Children's Hospital of Pittsburgh, UPMC Magee-Womens Hospital, and UPMC Presbyterian. Dr. Forsyth completed her medical degree and a fellowship at the University of Pittsburgh School of Medicine in addition to a residency and fellowship at The Johns Hopkins University School of Medicine. Dr. Forsyth is rated as an Experienced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. Her top areas of expertise are Urea Cycle Disorders (UCD), Ornithine Transcarbamylase Deficiency, Inborn Amino Acid Metabolism Disorder, and Carbamoyl Phosphate Synthetase 1 Deficiency.

Gerard (Jerry) Vockley MD, PhD, is a medical geneticist and is certified in clinical genetics and biochemical and molecular genetics by the American Board of Medical Genetics and Genomics. He is chief of the Division of Medical Genetics, director of the Center for Rare Disease Therapy, and is the Cleveland Family Endowed Professor of pediatric research at the University of Pittsburgh School of Medicine. He completed his medical degree and PhD at the University of Pennsylvania and completed his residency at the University of Colorado, followed by his fellowship at Yale University School of Medicine. Dr. Vockley is rated as an Experienced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. His top areas of expertise are Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, and Arginase Deficiency.

Alissa Romano is a Neurologist in Allentown, Pennsylvania. Dr. Romano is rated as an Experienced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. Her top areas of expertise are Distal Median Nerve Dysfunction, Spinal and Bulbar Muscular Atrophy, Spinal Muscular Atrophy Type 3, and Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease).

Alan Hammond is a Radiologist in Bethlehem, Pennsylvania. Dr. Hammond is rated as an Experienced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. His top areas of expertise are Pleurisy, Visceromegaly, Non-Alcoholic Fatty Liver Disease, and Pleural Effusion.

Philosophy of care | Having been on the receiving end of multiple cancer diagnoses within my own family as I grew up, I strongly believe my patients and their families have the right to an honest discussion about their disease process. I personally make every effort to explain things in a simple yet detailed way, so patients understand their disease, goals of care and treatment plan. I want to be a trusted partner in helping them deal with their diagnosis, and make every effort to treat each patient as I would a family member. | Why I entered medicine | My family suffers from a genetic syndrome that predisposes them to developing cancer. Having grown up watching and helping most of the people I love deal with cancer, I decided to study medicine and do what I could to improve treatment and help others live their best possible lives with this disease. After medical school, I did basic science research at Johns Hopkins University, followed by residency and fellowship training at the Cleveland Clinic and the University of Pittsburgh, all to become the best oncologist I could be. | Community involvement | I am involved in organizations and charities that improve the lives and treatment of cancer patients. I also help provide free specialized remote care and expert opinion to international patients in collaboration with their local health care providers. I enjoy community events to educate people on targeted therapies and their success in making cancer a chronic disease. I also enjoy giving talks on how oncology is evolving and how cancer today often means patients living full lives while being treated for their disease. | Personal interests | Outside of work, I love to spend time with my family and our two dogs. Together we enjoy cooking, traveling, trying new cuisines and being outdoors. I also enjoy hunting and fishing. Dr. Ali is rated as an Experienced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. His top areas of expertise are Familial Colorectal Cancer, Anal Cancer, Colorectal Cancer, and Lynch Syndrome.

Franziska J. Rosser, MD, MPH, is a pediatric pulmonologist at UPMC Children's Hospital of Pittsburgh and an assistant professor of pediatrics within the Division of Pulmonology at the University of Pittsburgh School of Medicine. Her preferred pronouns are she/her. She is board certified in pediatrics and pediatric pulmonology.Dr. Rosser received her medical degree from the University of South Alabama College of Medicine. She completed her pediatric residency at Greenville Hospital System/University of South Carolina Greenville followed by her pediatric pulmonology fellowship at UPMC Children’s Hospital of Pittsburgh/University of Pittsburgh School of Medicine. She received her Master of Public Health from the University of Pittsburgh Graduate School of Public Health.As a pediatric pulmonologist she specializes in caring for children with respiratory disorders. She is a member of the multidisciplinary Juvenile Systemic Scleroderma (jSSc) Center, the only such center in the nation, providing care for children with jSSc respiratory disease.Her research focuses on the epidemiological effects of outdoor air pollution on children with asthma. Dr. Rosser’s long-term goals are to develop innovative methods to identify children with asthma most at risk to the deleterious effects of air pollution. Additionally, while awaiting policy changes to improve air quality for all, she seeks to determine if individual interventions can improve asthma control and symptoms.Dr. Rosser is a former Clinical and Translational Science KL2 Scholar within the University of Pittsburgh Institute for Clinical Research Education (ICRE), has received funding from the American Thoracic Society to conduct a pilot clinical trial to evaluate adding the Air Quality Index to routine childhood asthma care, and is currently a principal investigator of a K08. She is a member of the American Thoracic Society where she is a member of the Environmental Health Policy Committee.View Dr. Rosser’s full list of publications from PubMed. Dr. Rosser is rated as an Experienced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. Her top areas of expertise are Asthma, Asthma in Children, Systemic Sclerosis (SSc), and Malnutrition.

Dr. Friedenberg is a neurologist board certified in neurology, neurophysiology and electromyography by the American Board of Psychiatry and Neurology. His clinical interests include neuromuscular disease (including ALS and muscular dystrophy), electromyography, general neurology and neurologic education. He earned his medical degree from Temple University, and completed his residency and fellowship at Mayo Clinic, Rochester, MN. Dr. Friedenberg is rated as an Experienced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. His top areas of expertise are Myasthenia Gravis, Miller-Fisher Syndrome, Chronic Polyradiculoneuritis, and Guillain-Barre Syndrome.

Amy Goldstein is a Pediatric Neurologist in Philadelphia, Pennsylvania. Dr. Goldstein is rated as an Advanced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. Her top areas of expertise are Kearns-Sayre Syndrome, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Mitochondrial Trifunctional Protein Deficiency, Hirsutism in Women, and Gastrostomy.

Chafic Karam is a Neurologist in Philadelphia, Pennsylvania. Dr. Karam is rated as an Experienced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. His top areas of expertise are Transthyretin Amyloidosis, Myasthenia Gravis, Chronic Inflammatory Demyelinating Polyneuropathy, Tissue Biopsy, and Laminectomy. Dr. Karam is currently accepting new patients.

Divisha Raheja is a Neurologist in Center Valley, Pennsylvania. Dr. Raheja is rated as an Experienced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. Her top areas of expertise are Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Spinal Muscular Atrophy (SMA), Spinal and Bulbar Muscular Atrophy, and Spinal Muscular Atrophy Type 3.

Pravin Patil is a Cardiologist in Philadelphia, Pennsylvania. Dr. Patil is rated as an Experienced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. His top areas of expertise are Heart Attack, Mitral Valve Regurgitation, Cardiomyopathy, and Pulmonary Hypertension.

Tomas Aleman is an Ophthalmologist in Philadelphia, Pennsylvania. Dr. Aleman is rated as an Experienced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. His top areas of expertise are Choroideremia, Leber Congenital Amaurosis, Retinopathy Pigmentary Mental Retardation, and Late-Onset Retinal Degeneration. Dr. Aleman is currently accepting new patients.

Amanda Shillingford is a Pediatric Cardiologist in Philadelphia,, Pennsylvania. Dr. Shillingford is rated as an Experienced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. Her top areas of expertise are Heterotaxy Syndrome, Hypoplastic Left Heart Syndrome (HLHS), Mitral Atresia, and Coarctation of the Aorta.

Terry Heiman is a Neurologist in Philadelphia, Pennsylvania. Dr. Heiman is rated as an Advanced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. Her top areas of expertise are Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, Spinal Muscular Atrophy (SMA), Spinal Muscular Atrophy Type 3, and Gastrostomy.

Alfred Joseph, MD, specializes in internal medicine and is certified in internal medicine by the American Board of Internal Medicine. He practices at Hermitage Internal Medicine-UPMC and is affiliated with UPMC Horizon. He completed his residency at Cleveland Clinic. Dr. Joseph is rated as an Experienced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. His top areas of expertise are Multiple Carboxylase Deficiency, Vitamin B12 Deficiency Anemia, Folate Deficiency, and Subacute Combined Degeneration.