The 20 Best PMM2-Congenital Disorder of Glycosylation Doctors in The United Kingdom

Find the Top PMM2-Congenital Disorder of Glycosylation Experts and Specialists

Last Updated: 04/28/2026

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MediFind found 39 doctor with experience in PMM2-Congenital Disorder of Glycosylation near The United Kingdom. Of these, 38 are Experienced and 1 are Advanced.

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39 providers found
    Advanced in PMM2-Congenital Disorder of Glycosylation

    Stephanie Grunewald
    Advanced in PMM2-Congenital Disorder of Glycosylation

    Stephanie Grunewald
    UCL Queen Square Institute Of Neurology, 
    London, ENG, GB 

    Stephanie Grunewald practices practicing medicine in London, United Kingdom. Ms. Grunewald is rated as an Advanced expert by MediFind in the treatment of PMM2-Congenital Disorder of Glycosylation. She is also highly rated in 22 other conditions, according to our data. Her clinical expertise encompasses Propionic Acidemia, SRD5A3-CDG, Urea Cycle Disorders (UCD), Classic Galactosemia, and Liver Transplant.

    Experienced in PMM2-Congenital Disorder of Glycosylation

    Francesco Muntoni
    Experienced in PMM2-Congenital Disorder of Glycosylation

    Francesco Muntoni
    Great Ormond Street Hospital Biomedical Research Centre, 
    London, ENG, GB 

    Francesco Muntoni practices practicing medicine in London, United Kingdom. Mr. Muntoni is rated as an Experienced expert by MediFind in the treatment of PMM2-Congenital Disorder of Glycosylation. He is also highly rated in 43 other conditions, according to our data. His clinical expertise encompasses Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, Primary Lateral Sclerosis, Spinal Muscular Atrophy (SMA), and Gastrostomy.

    Experienced in PMM2-Congenital Disorder of Glycosylation

    Silvia Torelli
    Experienced in PMM2-Congenital Disorder of Glycosylation

    Silvia Torelli
    UCL Great Ormond Street Institute Of Child Health, 
    London, ENG, GB 

    Silvia Torelli practices practicing medicine in London, United Kingdom. Ms. Torelli is rated as an Experienced expert by MediFind in the treatment of PMM2-Congenital Disorder of Glycosylation. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Limb-Girdle Muscular Dystrophy, and PMM2-Congenital Disorder of Glycosylation.

    Learn about our expert tiers
    Experienced in PMM2-Congenital Disorder of Glycosylation

    Fevronia Kiparissi
    Experienced in PMM2-Congenital Disorder of Glycosylation

    Fevronia Kiparissi
    Great Ormond Street Hospital NHS Foundation Trust, 
    London, ENG, GB 

    Fevronia Kiparissi practices practicing medicine in London, United Kingdom. Kiparissi is rated as an Experienced expert by MediFind in the treatment of PMM2-Congenital Disorder of Glycosylation. They are also highly rated in 5 other conditions, according to our data. Their clinical expertise encompasses Viral Gastroenteritis, Colitis, Crohn's Disease, Endoscopy, and Bone Marrow Transplant.

    Experienced in PMM2-Congenital Disorder of Glycosylation

    Pinki Munot
    Experienced in PMM2-Congenital Disorder of Glycosylation

    Pinki Munot
    Great Ormond Street Hospital, 
    Strete, ENG, GB 

    Pinki Munot practices practicing medicine in Strete, United Kingdom. Munot is rated as an Experienced expert by MediFind in the treatment of PMM2-Congenital Disorder of Glycosylation. They are also highly rated in 24 other conditions, according to our data. Their clinical expertise encompasses Familial Periodic Paralysis, Hypokalemic Periodic Paralysis, Primary Lateral Sclerosis, and Congenital Myasthenic Syndrome.

    Experienced in PMM2-Congenital Disorder of Glycosylation

    Detlef Bockenhauer
    Experienced in PMM2-Congenital Disorder of Glycosylation

    Detlef Bockenhauer
    Great Ormond Street Hospital For Children NHS Foundation Trust And Department Of Renal Medicine, 
    London, ENG, GB 

    Detlef Bockenhauer practices practicing medicine in London, United Kingdom. Bockenhauer is rated as an Experienced expert by MediFind in the treatment of PMM2-Congenital Disorder of Glycosylation. They are also highly rated in 40 other conditions, according to our data. Their clinical expertise encompasses Fanconi Syndrome, Fanconi Bickel Syndrome, Aminoaciduria, Osteotomy, and Lithotripsy.

    Experienced in PMM2-Congenital Disorder of Glycosylation

    Adnan Y. Manzur
    Experienced in PMM2-Congenital Disorder of Glycosylation

    Adnan Y. Manzur
    Great Ormond Street Hospital Biomedical Research Centre, 
    London, ENG, GB 

    Adnan Manzur practices practicing medicine in London, United Kingdom. Manzur is rated as an Experienced expert by MediFind in the treatment of PMM2-Congenital Disorder of Glycosylation. They are also highly rated in 19 other conditions, according to our data. Their clinical expertise encompasses Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, Primary Lateral Sclerosis, Congenital Myasthenic Syndrome, and Gastrostomy.

    Experienced in PMM2-Congenital Disorder of Glycosylation

    Robert Kleta
    Experienced in PMM2-Congenital Disorder of Glycosylation

    Robert Kleta
    Rowland Hill Street, 
    London, ENG, GB 

    Robert Kleta practices practicing medicine in London, United Kingdom. Mr. Kleta is rated as an Experienced expert by MediFind in the treatment of PMM2-Congenital Disorder of Glycosylation. He is also highly rated in 23 other conditions, according to our data. His clinical expertise encompasses Aminoaciduria, Fanconi Syndrome, Fanconi Bickel Syndrome, and Renal Hypomagnesemia Type 2.

    Experienced in PMM2-Congenital Disorder of Glycosylation

    Nadine Mccrea
    Experienced in PMM2-Congenital Disorder of Glycosylation

    Nadine Mccrea
    Oxford, ENG, GB 

    Nadine Mccrea practices practicing medicine in Oxford, United Kingdom. Ms. Mccrea is rated as an Experienced expert by MediFind in the treatment of PMM2-Congenital Disorder of Glycosylation. Her clinical expertise encompasses Focal or Multifocal Malformations in Neuronal Migration, PMM2-Congenital Disorder of Glycosylation, Benign Rolandic Epilepsy, and Neurofibromatosis Type 1 (NF1).

    Experienced in PMM2-Congenital Disorder of Glycosylation

    Monika Pathak
    Experienced in PMM2-Congenital Disorder of Glycosylation

    Monika Pathak
    Nottingham, ENG, GB 

    Monika Pathak practices practicing medicine in Nottingham, United Kingdom. Ms. Pathak is rated as an Experienced expert by MediFind in the treatment of PMM2-Congenital Disorder of Glycosylation. Her clinical expertise encompasses PMM2-Congenital Disorder of Glycosylation and Niemann-Pick Disease.

    Experienced in PMM2-Congenital Disorder of Glycosylation

    Isabelle Eggitt-Russell
    Experienced in PMM2-Congenital Disorder of Glycosylation

    Isabelle Eggitt-Russell
    London, ENG, GB 

    Isabelle Eggitt-Russell practices practicing medicine in London, United Kingdom. Ms. Eggitt-Russell is rated as an Experienced expert by MediFind in the treatment of PMM2-Congenital Disorder of Glycosylation. Her clinical expertise encompasses Congenital Cataract, PMM2-Congenital Disorder of Glycosylation, Cataract, and Cataract Removal.

    Experienced in PMM2-Congenital Disorder of Glycosylation

    Helen P. Roper
    Experienced in PMM2-Congenital Disorder of Glycosylation

    Helen P. Roper
    Birmingham, ENG, GB 

    Helen Roper practices practicing medicine in Birmingham, United Kingdom. Ms. Roper is rated as an Experienced expert by MediFind in the treatment of PMM2-Congenital Disorder of Glycosylation. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, Limb-Girdle Muscular Dystrophy, and X-Linked Myotubular Myopathy.

    Experienced in PMM2-Congenital Disorder of Glycosylation

    Kelsey D. Jones
    Experienced in PMM2-Congenital Disorder of Glycosylation

    Kelsey D. Jones
    Oxford, ENG, GB 

    Kelsey Jones practices practicing medicine in Oxford, United Kingdom. Jones is rated as an Experienced expert by MediFind in the treatment of PMM2-Congenital Disorder of Glycosylation. Their clinical expertise encompasses Malnutrition, Kwashiorkor, Viral Gastroenteritis, and Newborn Jaundice.

    Experienced in PMM2-Congenital Disorder of Glycosylation

    Rahul Phadke
    Experienced in PMM2-Congenital Disorder of Glycosylation

    Rahul Phadke
    UCL Queen Square Institute Of Neurology, Queen Square, 
    London, ENG, GB 

    Rahul Phadke practices practicing medicine in London, United Kingdom. Mr. Phadke is rated as an Experienced expert by MediFind in the treatment of PMM2-Congenital Disorder of Glycosylation. He is also highly rated in 19 other conditions, according to our data. His clinical expertise encompasses Arthrogryposis Multiplex Congenita, Congenital Contractures, Amyotonia Congenita, and Myotonia Congenita.

    Experienced in PMM2-Congenital Disorder of Glycosylation

    Liina Palm
    Experienced in PMM2-Congenital Disorder of Glycosylation

    Liina Palm

    Sheffield Children's NHS FT

    Sheffield, ENG, GB 

    Liina Palm practices practicing medicine in Sheffield, United Kingdom. Palm is rated as an Experienced expert by MediFind in the treatment of PMM2-Congenital Disorder of Glycosylation. Their clinical expertise encompasses PMM2-Congenital Disorder of Glycosylation, Sudden Infant Death Syndrome (SIDS), and Cushing's syndrome.

    Experienced in PMM2-Congenital Disorder of Glycosylation

    Lucy Feng
    Experienced in PMM2-Congenital Disorder of Glycosylation

    Lucy Feng
    Great Ormond Street Institute Of Child Health, 
    London, ENG, GB 

    Lucy Feng practices practicing medicine in London, United Kingdom. Ms. Feng is rated as an Experienced expert by MediFind in the treatment of PMM2-Congenital Disorder of Glycosylation. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Myotonia Congenita, Amyotonia Congenita, Duchenne Muscular Dystrophy, and Collagen VI-Related Myopathy.

    Experienced in PMM2-Congenital Disorder of Glycosylation

    Tamas Marton
    Experienced in PMM2-Congenital Disorder of Glycosylation

    Tamas Marton
    Birmingham, ENG, GB 

    Tamas Marton practices practicing medicine in Birmingham, United Kingdom. Mr. Marton is rated as an Experienced expert by MediFind in the treatment of PMM2-Congenital Disorder of Glycosylation. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Hydrops Fetalis, Fetal Edema, Acquired Amegakaryocytic Thrombocytopenia, and Cerebral Hypoxia.

    Experienced in PMM2-Congenital Disorder of Glycosylation

    Antonia Dastamani
    Experienced in PMM2-Congenital Disorder of Glycosylation

    Antonia Dastamani
    Great Ormond Street Hospital For Children, 
    London, ENG, GB 

    Antonia Dastamani practices practicing medicine in London, United Kingdom. Ms. Dastamani is rated as an Experienced expert by MediFind in the treatment of PMM2-Congenital Disorder of Glycosylation. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Congenital Hyperinsulinism, Low Blood Sugar, Newborn Low Blood Sugar, Gastrostomy, and Pancreatectomy.

    Experienced in PMM2-Congenital Disorder of Glycosylation

    Holm H. Uhlig
    Experienced in PMM2-Congenital Disorder of Glycosylation

    Holm H. Uhlig
    Oxford, ENG, GB 

    Holm Uhlig practices practicing medicine in Oxford, United Kingdom. Uhlig is rated as an Experienced expert by MediFind in the treatment of PMM2-Congenital Disorder of Glycosylation. They are also highly rated in 14 other conditions, according to our data. Their clinical expertise encompasses Viral Gastroenteritis, Atresia of Small Intestine, Ruvalcaba Syndrome, Bone Marrow Transplant, and Endoscopy.

    Experienced in PMM2-Congenital Disorder of Glycosylation

    Philippa B. Mills
    Experienced in PMM2-Congenital Disorder of Glycosylation

    Philippa B. Mills
    30 Guilford Street, WC1N 1EH, 
    London, ENG, GB 

    Philippa Mills practices practicing medicine in London, United Kingdom. Ms. Mills is rated as an Experienced expert by MediFind in the treatment of PMM2-Congenital Disorder of Glycosylation. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Argininosuccinic Aciduria, Urea Cycle Disorders (UCD), Orotic Aciduria Type 1, and Pyridoxine Deficiency.

    While we make every effort to provide the best results possible, data is currently limited outside of the United States. Doctors listed may include both clinicians and researchers, and individuals relocate frequently. We recommend contacting doctors directly to confirm their location and areas of focus. Contact information is provided when available. Learn more about our expert tiers.
    Showing 1-20 of 39

    Last Updated: 04/28/2026

    What is the definition of PMM2-Congenital Disorder of Glycosylation?

    PMM2-congenital disorder of glycosylation (PMM2-CDG, also known as congenital disorder of glycosylation type Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with PMM2-CDG vary widely among affected individuals, sometimes even among members of the same family.

    When should I see a PMM2-Congenital Disorder of Glycosylation doctor in The United Kingdom?

    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 PMM2-Congenital Disorder of Glycosylation doctor in The United Kingdom?

    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 do I find the best PMM2-Congenital Disorder of Glycosylation doctor in The United Kingdom?

    You can find a PMM2-Congenital Disorder of Glycosylation doctor in any of the 10 largest U.S. cities by clicking below:

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    How does MediFind rank PMM2-Congenital Disorder of Glycosylation doctors in The United Kingdom?

    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 PMM2-Congenital Disorder of Glycosylation doctors in The United Kingdom?

    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 PMM2-Congenital Disorder of Glycosylation doctor in The United Kingdom?

    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 PMM2-Congenital Disorder of Glycosylation doctor search results page. 

    Why is it important to get a second opinion from a different PMM2-Congenital Disorder of Glycosylation 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 PMM2-Congenital Disorder of Glycosylation doctor in The United Kingdom?

    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 PMM2-Congenital Disorder of Glycosylation 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 PMM2-Congenital Disorder of Glycosylation 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 PMM2-Congenital Disorder of Glycosylation doctors in The United Kingdom?

    Look for the filter feature on the left side of the PMM2-Congenital Disorder of Glycosylation 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 PMM2-Congenital Disorder of Glycosylation doctor that offers video calls?

    Look for the filter feature on the left-side of the PMM2-Congenital Disorder of Glycosylation 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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