The 20 Best Pyruvate Dehydrogenase Deficiency Doctors in The United States

Find the Top Pyruvate Dehydrogenase Deficiency Experts and Specialists

Last Updated: 09/26/2026

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MediFind found 103 doctor with experience in Pyruvate Dehydrogenase Deficiency near The United States. Of these, 70 are Experienced, 29 are Advanced, 2 are Distinguished and 2 are Elite.

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103 providers found
    Elite in Pyruvate Dehydrogenase Deficiency
    Pediatrics | Medical Genetics
    Elite in Pyruvate Dehydrogenase Deficiency
    Pediatrics | Medical Genetics
    Referral may be required
    2 Greenway Plz, Suite 900, 
    Houston, TX 
    Languages Spoken:
    English

    Nicola Brunetti-Pierri is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Houston, Texas. Dr. Brunetti-Pierri is rated as an Elite provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. He is also highly rated in 39 other conditions, according to our data. His clinical expertise encompasses Crigler-Najjar Syndrome, Rotor Syndrome, Pyruvate Decarboxylase Deficiency, and Argininosuccinic Aciduria.

    Elite in Pyruvate Dehydrogenase Deficiency
    Medical Genetics | Pediatrics
    Elite in Pyruvate Dehydrogenase Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    University Of Pittsburgh Physicians

    4401 Penn Ave, 
    Pittsburgh, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Jirair Bedoyan is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Pittsburgh, Pennsylvania. Dr. Bedoyan is rated as an Elite provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Pyruvate Decarboxylase Deficiency, Pyruvate Dehydrogenase Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, Urea Cycle Disorders (UCD), and Gastrostomy. Dr. Bedoyan is currently accepting new patients.

    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics | Pediatrics
    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    State University Of Iowa

    200 Hawkins Dr, 
    Iowa City, IA 
    Languages Spoken:
    English, French
    Accepting New Patients

    Amy Calhoun is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Iowa City, Iowa. Dr. Calhoun is rated as an Advanced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Wolf-Hirschhorn Syndrome, Otospondylomegaepiphyseal Dysplasia, MELAS Syndrome, and Costello Syndrome. Dr. Calhoun is currently accepting new patients.

    Learn about our expert tiers
    Experienced in Pyruvate Dehydrogenase Deficiency
    Experienced in Pyruvate Dehydrogenase Deficiency
    Referral may be required

    St. Christopher's Pediatric Associates Genetics - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English, Spanish
    Accepting New Patients

    Tarachandra Narumanchi is a Medical Genetics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Narumanchi is rated as an Experienced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, and Dihydropteridine Reductase Deficiency. Dr. Narumanchi is board certified in American Board Of Medical Genetics And Genomics. Dr. Narumanchi is currently accepting new patients.

    Experienced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics | Pediatrics
    Experienced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    The Emory Clinic Inc

    1365 Clifton Rd Ne, 
    Atlanta, GA 
    Languages Spoken:
    English, Japanese
    Accepting New Patients

    Mari Mori is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Atlanta, Georgia. Dr. Mori is rated as an Experienced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses FG Syndrome, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Von Gierke Disease, and Ornithine Transcarbamylase Deficiency. Dr. Mori is currently accepting new patients.

    Distinguished in Pyruvate Dehydrogenase Deficiency
    Medical Genetics | Pediatrics | Pediatric Neurology
    Distinguished in Pyruvate Dehydrogenase Deficiency
    Medical Genetics | Pediatrics | Pediatric Neurology
    Referral may be required

    University Hospitals Medical Group Inc

    11100 Euclid Ave, 
    Cleveland, OH 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Suzanne Debrosse is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Cleveland, Ohio. Dr. Debrosse is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. She is also highly rated in 89 other conditions, according to our data. Her clinical expertise encompasses Pyruvate Decarboxylase Deficiency, Pyruvate Dehydrogenase Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, and PEPCK 1 Deficiency. Dr. Debrosse is currently accepting new patients.

    Distinguished in Pyruvate Dehydrogenase Deficiency
    Medical Genetics | Pediatrics
    Distinguished in Pyruvate Dehydrogenase Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    Childrens Health Care Associates Inc

    3401 Civic Ctr Blvd, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Marni Falk is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Falk is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Leigh Syndrome, Kearns-Sayre Syndrome, Dihydrolipoamide Dehydrogenase Deficiency, Progressive External Ophthalmoplegia, and Spinal Fusion.

    Advanced in Pyruvate Dehydrogenase Deficiency
    Pediatrics | Medical Genetics
    Advanced in Pyruvate Dehydrogenase Deficiency
    Pediatrics | Medical Genetics
    Referral may be required

    M Health Fairview Explorer Pediatric Specialty Clinic

    12th Flr, East Bld 2450 Riverside Ave, 
    Minneapolis, MN 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Susan Berry is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Minneapolis, Minnesota. Dr. Berry is rated as an Advanced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. She is also highly rated in 19 other conditions, according to our data. Her clinical expertise encompasses Propionic Acidemia, Argininosuccinic Aciduria, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, and Alkaptonuria. Dr. Berry is board certified in Clinical Genetics And Genomics: American Board Of Medical Genetics And Genomics, 1984 and Pediatrics: American Board Of Pediatrics, 1983. Dr. Berry is currently accepting new patients.

    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics | Pediatrics
    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    University Of Michigan Pediatric Genetics Clinic

    1540 East Hospital Drive, Floor 6, 
    Ann Arbor, MI 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Shane Quinonez is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Quinonez is rated as an Advanced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. He is also highly rated in 130 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Dihydrolipoamide Dehydrogenase Deficiency, MELAS Syndrome, and Maple Syrup Urine Disease. Dr. Quinonez is board certified in Pediatrics, American Board Of Pediatrics, Pediatrics - 2011, Clinical Biochemical Genetics, American Board Of Medical Genetics And Genomics, Medical Biochemical Genetics - 2015 , American Board Of Medical Genetics And Genomics, Clinical Biochemical Genetics - 2024 , and Clinical Genetics & Genomics. Dr. Quinonez is currently accepting new patients.

    Advanced in Pyruvate Dehydrogenase Deficiency
    Pediatrics | Medical Genetics
    Advanced in Pyruvate Dehydrogenase Deficiency
    Pediatrics | Medical Genetics
    Referral may be required

    Corewell Health Grand Rapids Hospitals Biochemical Genetics - 25 Michigan St NE

    25 Michigan Street Northeast, Suite 2100, 
    Grand Rapids, MI 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Jessica Priestley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Grand Rapids, Michigan. Dr. Priestley is rated as an Advanced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. She is also highly rated in 21 other conditions, according to our data. Her clinical expertise encompasses Fabry Disease, Ornithine Transcarbamylase Deficiency, Biotinidase Deficiency, and Multiple Sulfatase Deficiency. Dr. Priestley is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics. Dr. Priestley is currently accepting new patients.

    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics
    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics
    Referral may be required

    Sanford Veterans Square Clinic

    3955 56th St. S., 
    Fargo, ND 
    Languages Spoken:
    English
    Accepting New Patients

    Kari Casas is a Medical Genetics provider practicing medicine in Fargo, North Dakota. Dr. Casas is rated as an Advanced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Ornithine Translocase Deficiency, Ornithine Transcarbamylase Deficiency, Pyruvate Decarboxylase Deficiency, and Phenylketonuria (PKU). Dr. Casas is board certified in American Board Of Medical Genetics: Clinical Genetics Br> American Board Of Medical Genetics: Clinical Biochemical Genetics. Dr. Casas is currently accepting new patients.

    Experienced in Pyruvate Dehydrogenase Deficiency
    Family Medicine
    Experienced in Pyruvate Dehydrogenase Deficiency
    Family Medicine

    Samaritan Family Medicine-Geary St

    1700 Geary St SE Ste 200, 
    Albany, OR 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Jesse Heuer is a primary care provider, practicing in Family Medicine in Albany, Oregon. Dr. Heuer is rated as an Experienced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Maturity Onset Diabetes of the Young, Type 2 Diabetes (T2D), Osteomyelitis in Children, and Sciatica. Dr. Heuer is currently accepting new patients.

    Experienced in Pyruvate Dehydrogenase Deficiency
    Family Medicine
    Experienced in Pyruvate Dehydrogenase Deficiency
    Family Medicine

    Eupora Family Medical Clinic

    1301 Veterans Memorial Blvd, 
    Eupora, MS 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    David Booth is a primary care provider, practicing in Family Medicine in Eupora, Mississippi. Dr. Booth is rated as an Experienced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses Urinary Tract Infection in Children, Type 2 Diabetes (T2D), Gastroparesis, and Osteoarthritis. Dr. Booth is currently accepting new patients.

    Experienced in Pyruvate Dehydrogenase Deficiency
    Family Medicine
    Experienced in Pyruvate Dehydrogenase Deficiency
    Family Medicine

    Essentia Health-Park Rapids Clinic

    705 Pleasant Ave S, 
    Park Rapids, MN 
    Languages Spoken:
    English
    Accepting New Patients

    Michele Thieman is a primary care provider, practicing in Family Medicine in Park Rapids, Minnesota. Dr. Thieman is rated as an Experienced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Macrophagic Myofasciitis, Myositis, Paroxysmal Cold Hemoglobinuria, and Giant Cell Arteritis (GCA). Dr. Thieman is currently accepting new patients.

    Experienced in Pyruvate Dehydrogenase Deficiency
    Family Medicine
    Experienced in Pyruvate Dehydrogenase Deficiency
    Family Medicine

    Primary Care Drexel Hill

    3030 Garrett Rd, 
    Drexel Hill, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Erica Sturdivant is a primary care provider, practicing in Family Medicine in Drexel Hill, Pennsylvania. Dr. Sturdivant is rated as an Experienced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Obesity, Hypertension, Glucocorticoid-Remediable Aldosteronism, and Familial Hypertension. Dr. Sturdivant is currently accepting new patients.

    Experienced in Pyruvate Dehydrogenase Deficiency
    Family Medicine
    Experienced in Pyruvate Dehydrogenase Deficiency
    Family Medicine

    Westborough Family Medicine

    24 Lyman Street, 
    Westborough, MA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Daniel Freitas is a primary care provider, practicing in Family Medicine in Westborough, Massachusetts. Dr. Freitas is rated as an Experienced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Multisystem Inflammatory Syndrome in Children (MIS-C), COVID-19, Glucocorticoid-Remediable Aldosteronism, and Hypertension. Dr. Freitas is board certified in Family Medicine. Dr. Freitas is currently accepting new patients.

    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics
    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics
    Referral may be required

    The General Hospital Corporation

    55 Fruit St, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Amel Karaa is a Medical Genetics provider practicing medicine in Boston, Massachusetts. Dr. Karaa is rated as an Advanced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. She is also highly rated in 18 other conditions, according to our data. Her clinical expertise encompasses Thymidine Kinase 2 Deficiency (TK2d), MELAS Syndrome, Fabry Disease, and Pyruvate Decarboxylase Deficiency. Dr. Karaa is currently accepting new patients.

    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics | Pediatrics
    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics | Pediatrics
    Referral may be required
    2150 Herbert Ct, Ecu Physicians Pediatric Genetics, 
    Greenville, NC 
    Languages Spoken:
    English

    Margie Jaworski is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Greenville, North Carolina. Dr. Jaworski is rated as an Advanced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Pyruvate Dehydrogenase Deficiency and Pyruvate Decarboxylase Deficiency.

    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics | Pediatrics | Physiatry
    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics | Pediatrics | Physiatry
    Referral may be required

    Childrens Health Care Associates Inc

    3401 Civic Ctr Blvd, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Offers Telehealth

    Can Ficicioglu is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Ficicioglu is rated as an Advanced provider by MediFind in the treatment of Pyruvate Dehydrogenase 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 Gaucher Disease.

    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics | Pediatrics
    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    Iu Health Medical Group, LLC

    1701 N Senate Blvd, 
    Indianapolis, IN 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Bryan Hainline is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Indianapolis, Indiana. Dr. Hainline is rated as an Advanced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. He is also highly rated in 69 other conditions, according to our data. His clinical expertise encompasses Phenylketonuria (PKU), Pyruvate Carboxylase Deficiency, Urea Cycle Disorders (UCD), and Inborn Amino Acid Metabolism Disorder. Dr. Hainline is currently accepting new patients.

    Showing 1-20 of 103

    Last Updated: 09/26/2026

    What is the definition of Pyruvate Dehydrogenase Deficiency?

    Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some parts of the brain. Because of the severe health effects, many individuals with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood.

    When should I see a Pyruvate Dehydrogenase Deficiency doctor in The United States?

    There are various reasons why you may want to see a specialist, such as: 

    • Your primary care provider recommends it. 
    • Your condition requires expert knowledge and specialized care. 
    • Your symptoms persist or worsen despite treatment. 
    • You need specialized testing or procedures. 
    • You want a second opinion.  

    What should I consider when choosing a Pyruvate Dehydrogenase Deficiency doctor in The United States?

    It’s important to see a provider with expertise in your specific condition. Each provider profile in MediFind’s doctor database includes information on which conditions they treat, years of experience, research contributions, languages spoken, insurance plans accepted, and more.  

    How does MediFind rank Pyruvate Dehydrogenase Deficiency doctors in The United States?

    MediFind’s rankings are based on a variety of data sources, such as the number of articles a doctor has published in medical journals, participation in clinical trials and industry conferences, as well as the number of patients that provider sees for a given condition. Note that MediFind’s provider database is not based on user reviews, and providers do not pay to be included in the database. 

    What types of insurance are accepted by Pyruvate Dehydrogenase Deficiency doctors in The United States?

    Most profiles in MediFind’s doctor database include a list of insurance plans accepted by that provider. However, it’s a good idea to contact the provider’s office to make sure they still accept your insurance, then doublecheck by contacting your insurance plan to confirm they’re in network. 

    How can I book an appointment online with a Pyruvate Dehydrogenase Deficiency doctor in The United States?

    MediFind offers direct scheduling for certain providers using the “Request Appointment” button on that provider’s profile. If the schedule option is not available for a provider, tap the red “Show Phone Number” button on their profile to get their contact information. If you prefer to find providers who offer online scheduling, select “Schedules online” under the “Availability” category of the filter feature on the left side of the Pyruvate Dehydrogenase Deficiency doctor search results page. 

    Why is it important to get a second opinion from a different Pyruvate Dehydrogenase Deficiency doctor?

    Second opinions are an opportunity to confirm a diagnosis and its root cause, learn about alternative treatment options, or simply gain peace of mind. Many people, especially those with serious diagnoses, get second opinions so they can understand all their options and make informed decisions, so don’t hesitate to get one if you have any doubts or need more information or clarification regarding your care. Note that some insurance plans require second opinions, while others don’t cover second opinions, so be sure to confirm with your insurance provider first.   

    How can I prepare for my appointment with a Pyruvate Dehydrogenase Deficiency doctor in The United States?

    Prepare for your appointment by gathering the following items: 

    • Copies of medical records (dating back at least one year) 
    • Your medical history, including illnesses, medical conditions, surgeries, and other doctors you see 
    • Family history of disease 
    • List of current prescription drugs, over-the-counter medicines, vitamins, and herbal remedies or supplements including names and doses 
    • Allergies to medications, food, latex, insects, etc.  
    • List of questions and concerns 
    • Your insurance card 

    You might also contact the provider’s office to see if they offer transportation or childcare services or if you’re allowed to bring a loved one for support or to take notes during your visit. 

    What questions should I ask my Pyruvate Dehydrogenase Deficiency doctor?

    Here are some sample questions: 

    • Can you explain in simple terms what this condition is and how it’s treated? 
    • What symptoms or side effects should I watch for? 
    • What tests will be involved, and when can I expect results? 
    • Are there other specialists I need to see? 
    • What’s the best way to reach you if I have follow-up questions? 

    How can I learn about the latest clinical trials and research advances my Pyruvate Dehydrogenase Deficiency doctor may know about?

    MediFind’s Clinical Trials tool asks you a series of questions to help you narrow down your search by health condition, age, gender, location, how far you’re willing to travel, and more. Each question you answer filters down the number of trials until you find the ones that are most relevant to you. 

    MediFind’s Latest Advances tool features summaries of recent articles published in medical journals. We use cutting-edge technology to scour medical publication databases for the latest research advancements on any given condition, then we simplify this information in a way that’s useful and easy to understand. 

    Can I filter my search to show male or female Pyruvate Dehydrogenase Deficiency doctors in The United States?

    Look for the filter feature on the left side of the Pyruvate Dehydrogenase Deficiency doctor search results page. Select “Female” or “Male” under the “Gender” category to search for female or male providers exclusively. If the “Any” option is selected, it will pull results for both male and female providers. 

    Can I filter my search to find a Pyruvate Dehydrogenase Deficiency doctor that offers video calls?

    Look for the filter feature on the left-side of the Pyruvate Dehydrogenase Deficiency doctor search results page. Select “Offers telehealth visits” under the Availability category to search for providers who offer virtual appointments (video calls). 

    Reviewed on: 11/11/24  

    By: MediFind Medical Staff 

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