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    Last Updated: 10/30/2025

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    MediFind found 14 doctor with experience in X-Linked Creatine Deficiency near Pennsylvania, US. Of these, 12 are Experienced, 1 are Advanced and 1 are Distinguished.

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    14 providers found
      Distinguished in X-Linked Creatine Deficiency
      Medical Genetics | Pediatrics | Physiatry
      Distinguished in X-Linked Creatine Deficiency
      Medical Genetics | Pediatrics | Physiatry

      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 in Philadelphia, Pennsylvania. Dr. Ficicioglu is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. His top areas of expertise are Classic Galactosemia, Urea Cycle Disorders (UCD), Galactose Epimerase Deficiency, and Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome).

      Advanced in X-Linked Creatine Deficiency
      Medical Genetics | Pediatrics
      Advanced in X-Linked Creatine Deficiency
      Medical Genetics | Pediatrics

      Childrens Health Care Associates Inc

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

      Kim Ng is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Ng is rated as an Advanced provider by MediFind in the treatment of X-Linked Creatine Deficiency. Her top areas of expertise are Citrullinemia, Maple Syrup Urine Disease, Beta-Ketothiolase Deficiency, and Argininosuccinic Aciduria.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Joshua W. Owens
      Experienced in X-Linked Creatine Deficiency
      Medical Genetics
      Experienced in X-Linked Creatine Deficiency
      Medical Genetics

      Medical Genetics In Lawrenceville

      4401 Penn Avenue, 
      Pittsburgh, PA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Joshua Owens, MD, specializes in medical genetics in addition to pediatric genetics and genomics and is board-certified by the American Board of Medical Genetics and Genomics. He practices at Medical Genetics in Lawrenceville and Medical Genetics in Sewickley and is affiliated with UPMC Children's Hospital of Pittsburgh, UPMC Magee-Womens Hospital, and UPMC Presbyterian. Dr. Owens received his medical degree from the University of South Carolina School of Medicine and completed his residency at Cincinnati Children's Hospital Medical Center. Dr. Owens is rated as an Experienced provider by MediFind in the treatment of X-Linked Creatine Deficiency. His top areas of expertise are Early Infantile Epileptic Encephalopathy, Primary Ciliary Dyskinesia (PCD), Lateral Meningocele Syndrome, and Joubert Syndrome.

      Learn about our expert tiers
      Experienced in X-Linked Creatine Deficiency
      Internal Medicine
      Experienced in X-Linked Creatine Deficiency
      Internal Medicine
      1501 Lansdowne Ave, Suite 308, 
      Darby, PA 
      Experience:
      43+ years
      Languages Spoken:
      English

      Bezarel Banadda is a primary care provider, practicing in Internal Medicine in Darby, Pennsylvania. Dr. Banadda has been practicing medicine for over 43 years and is rated as an Experienced provider by MediFind in the treatment of X-Linked Creatine Deficiency. His top areas of expertise are Muscle Atrophy, Glucocorticoid-Remediable Aldosteronism, Familial Hypertension, Hypertension, and Gastrostomy.

      Experienced in X-Linked Creatine Deficiency
      Experienced in X-Linked Creatine Deficiency

      Penn Neuroscience Center - Neurology

      3400 Civic Center Boulevard, South Pavilion, 2nd Floor, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Jennifer Murphy is a Neurologist in Philadelphia, Pennsylvania. Dr. Murphy is rated as an Experienced provider by MediFind in the treatment of X-Linked Creatine Deficiency. Her top areas of expertise are Phosphoglycerate Mutase Deficiency, Glycogen Storage Disease Type 7, Phosphoglycerate Kinase Deficiency, and Glycogen Storage Disease Type 9. Dr. Murphy is currently accepting new patients.

      Experienced in X-Linked Creatine Deficiency
      Pediatric Neurology | Neurology
      Experienced in X-Linked Creatine Deficiency
      Pediatric Neurology | Neurology

      Childrens Health Care Associates Inc

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

      Mark Fitzgerald is a Pediatric Neurologist and a Neurologist in Philadelphia, Pennsylvania. Dr. Fitzgerald is rated as an Experienced provider by MediFind in the treatment of X-Linked Creatine Deficiency. His top areas of expertise are Seizures, Memory Loss, Lennox-Gastaut Syndrome (LGS), and Aphantasia.

      Experienced in X-Linked Creatine Deficiency
      Medical Genetics | Pediatrics
      Experienced in X-Linked Creatine Deficiency
      Medical Genetics | Pediatrics

      Childrens Health Care Associates Inc

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

      Francis Reynoso is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Reynoso is rated as an Experienced provider by MediFind in the treatment of X-Linked Creatine Deficiency. Her top areas of expertise are Biotinidase Deficiency, Maple Syrup Urine Disease, Argininosuccinic Aciduria, and 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency.

      Experienced in X-Linked Creatine Deficiency
      Pediatric Pulmonology | Pediatrics | Pulmonary Medicine
      Experienced in X-Linked Creatine Deficiency
      Pediatric Pulmonology | Pediatrics | Pulmonary Medicine

      Childrens Health Care Associates Inc

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

      Jenny Lin is a Pediatric Pulmonologist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Lin is rated as an Experienced provider by MediFind in the treatment of X-Linked Creatine Deficiency. Her top areas of expertise are Malonyl-CoA Decarboxylase Deficiency, GABA-Transaminase Deficiency, Succinic Semialdehyde Dehydrogenase Deficiency, and X-Linked Creatine Deficiency.

      Experienced in X-Linked Creatine Deficiency
      Pediatric Pulmonology | Pediatrics | Intensive Care Medicine
      Experienced in X-Linked Creatine Deficiency
      Pediatric Pulmonology | Pediatrics | Intensive Care Medicine

      Childrens Health Care Associates Inc

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

      Oscar Mayer is a Pediatric Pulmonologist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Mayer is rated as an Experienced provider by MediFind in the treatment of X-Linked Creatine Deficiency. His top areas of expertise are Duchenne Muscular Dystrophy, Spondylocostal Dysostosis, Spinal Muscular Atrophy Type 2, and Microcephaly Deafness Syndrome.

      Experienced in X-Linked Creatine Deficiency
      Pediatrics | Medical Genetics
      Experienced in X-Linked Creatine Deficiency
      Pediatrics | Medical Genetics

      Childrens Health Care Associates Inc

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

      Rebecca Ahrens-Nicklas is a Pediatrics specialist and a Medical Genetics provider in Philadelphia, Pennsylvania. Dr. Ahrens-Nicklas is rated as an Experienced provider by MediFind in the treatment of X-Linked Creatine Deficiency. Her top areas of expertise are Multiple Sulfatase Deficiency, Cardiomyopathic Lentiginosis, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, and Noonan Syndrome.

      Experienced in X-Linked Creatine Deficiency
      Experienced in X-Linked Creatine Deficiency
      235 S 8th St, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Terrence Ishmael is an Orthopedics provider in Philadelphia, Pennsylvania. Dr. Ishmael is rated as an Experienced provider by MediFind in the treatment of X-Linked Creatine Deficiency. His top areas of expertise are Scoliosis, Clubfoot, Hereditary Multiple Osteochondromas, Arthrogryposis Multiplex Congenita, and Spinal Fusion. Dr. Ishmael is currently accepting new patients.

      Experienced in X-Linked Creatine Deficiency
      Experienced in X-Linked Creatine Deficiency
      34th St. & Civic Center Blvd, The Children's Hospital Of Philadelphia, Room 9nw55, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Rebecca Ganetzky is a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Ganetzky is rated as an Experienced provider by MediFind in the treatment of X-Linked Creatine Deficiency. Her top areas of expertise are Leigh Syndrome, Kearns-Sayre Syndrome, Pyruvate Carboxylase Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, and Splenectomy.

      Experienced in X-Linked Creatine Deficiency
      Family Medicine
      Experienced in X-Linked Creatine Deficiency
      Family Medicine

      Family Practice Center PC

      1950 Marietta Avenue, 
      Lancaster, PA 
      Languages Spoken:
      English

      Mark F. Cohen, DO, specializes in family medicine. He is affiliated with UPMC Lititz. Dr. Cohen completed his residency at UPMC Lititz (Heart of Lancaster Regional Medical Center and medical degree at Philadelphia College of Osteopathic Medicine. Dr. Cohen is rated as an Experienced provider by MediFind in the treatment of X-Linked Creatine Deficiency. His top areas of expertise are Pericarditis, Maturity Onset Diabetes of the Young, Low Sodium Level, and Anemia.

      Experienced in X-Linked Creatine Deficiency
      Medical Genetics | Pediatrics
      Experienced in X-Linked Creatine Deficiency
      Medical Genetics | Pediatrics
      3401 Civic Center Blvd, 9nw63, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Dena Matalon is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Matalon is rated as an Experienced provider by MediFind in the treatment of X-Linked Creatine Deficiency. Her top areas of expertise are Campomelia Cumming Type, Coffin-Lowry Syndrome, Microcephaly Deafness Syndrome, and Nevoid Basal Cell Carcinoma Syndrome.

      Showing 1-14 of 14

      Last Updated: 10/30/2025

      What is the definition of X-Linked Creatine Deficiency?

      X-linked creatine deficiency is an inherited disorder that primarily affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as attention-deficit/hyperactivity disorder (ADHD) or autistic behaviors that affect communication and social interaction. They may also experience seizures. Children with X-linked creatine deficiency may grow slower and develop motor skills, such as sitting and walking, later than their peers. Affected individuals tend to tire easily.

      When should I see a X-Linked Creatine Deficiency doctor in Pennsylvania, US?

      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 X-Linked Creatine Deficiency doctor in Pennsylvania, US?

      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 X-Linked Creatine Deficiency doctors in Pennsylvania, US?

      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 X-Linked Creatine Deficiency doctors in Pennsylvania, US?

      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 X-Linked Creatine Deficiency doctor in Pennsylvania, US?

      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 X-Linked Creatine Deficiency doctor search results page. 

      Why is it important to get a second opinion from a different X-Linked Creatine 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 X-Linked Creatine Deficiency doctor in Pennsylvania, US?

      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 X-Linked Creatine 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 X-Linked Creatine 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 X-Linked Creatine Deficiency doctors in Pennsylvania, US?

      Look for the filter feature on the left side of the X-Linked Creatine 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 X-Linked Creatine Deficiency doctor that offers video calls?

      Look for the filter feature on the left-side of the X-Linked Creatine 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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