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    Last Updated: 10/30/2025

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    MediFind found 29 doctor with experience in Mucolipidosis Type 4 near The United States. Of these, 15 are Experienced, 8 are Advanced, 4 are Distinguished and 2 are Elite.

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    LocationClose
    29 providers found
      Sara S. Cathey
      Elite in Mucolipidosis Type 4
      Medical Genetics
      Elite in Mucolipidosis Type 4
      Medical Genetics

      Greenwood Genetic Center– Charleston

      3520 West Montague Avenue, 
      Charleston, SC 
      Languages Spoken:
      English
      Accepting New Patients

      Sara Cathey is a Medical Genetics provider in Charleston, South Carolina. Dr. Cathey is rated as an Elite provider by MediFind in the treatment of Mucolipidosis Type 4. Her top areas of expertise are Aspartylglucosaminuria, Mucolipidosis Type 4, Sialidosis, and Mucolipidosis 3. Dr. Cathey is currently accepting new patients.

      Elite in Mucolipidosis Type 4
      Medical Genetics
      Elite in Mucolipidosis Type 4
      Medical Genetics
      111 Michigan Ave Nw, 
      Washington, DC 
      Languages Spoken:
      English

      Cynthia Tifft is a Medical Genetics provider in Washington, Washington, D.c.. Dr. Tifft is rated as an Elite provider by MediFind in the treatment of Mucolipidosis Type 4. Her top areas of expertise are Sandhoff Disease, Gangliosidosis, GM1 Gangliosidosis, and Tay-Sachs Disease.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Distinguished in Mucolipidosis Type 4
      Medical Genetics
      Distinguished in Mucolipidosis Type 4
      Medical Genetics
      9300 Valley Childrens Pl # Ge21, 
      Madera, CA 
      Languages Spoken:
      English

      Jaime Barea is a Medical Genetics provider in Madera, California. Dr. Barea is rated as a Distinguished provider by MediFind in the treatment of Mucolipidosis Type 4. His top areas of expertise are Mucolipidosis Type 4, Sialidosis, Mucolipidosis 3, and Propionic Acidemia.

      Learn about our expert tiers
      Distinguished in Mucolipidosis Type 4
      Medical Genetics | Pediatrics
      Distinguished in Mucolipidosis Type 4
      Medical Genetics | Pediatrics
      7920 Frost St, Ste 200, 
      San Diego, CA 
      Languages Spoken:
      English

      Lynne Bird is a Medical Genetics specialist and a Pediatrics provider in San Diego, California. Dr. Bird is rated as a Distinguished provider by MediFind in the treatment of Mucolipidosis Type 4. Her top areas of expertise are Angelman Syndrome, Prader-Willi Syndrome, VACTERL Association, and Mucolipidosis Type 4.

      Distinguished in Mucolipidosis Type 4
      Medical Genetics
      Distinguished in Mucolipidosis Type 4
      Medical Genetics
      125 Gregor Mendel Cir, 
      Greenwood, SC 
      Languages Spoken:
      English

      Michael Friez is a Medical Genetics provider in Greenwood, South Carolina. Dr. Friez is rated as a Distinguished provider by MediFind in the treatment of Mucolipidosis Type 4. His top areas of expertise are Rett Syndrome, Mucolipidosis Type 4, Autism Spectrum Disorder, and Scalp-Ear-Nipple Syndrome.

      Distinguished in Mucolipidosis Type 4
      Medical Genetics
      Distinguished in Mucolipidosis Type 4
      Medical Genetics
      125 Gregor Mendel Cir, 
      Greenwood, SC 
      Languages Spoken:
      English

      Timothy Wood is a Medical Genetics provider in Greenwood, South Carolina. Dr. Wood is rated as a Distinguished provider by MediFind in the treatment of Mucolipidosis Type 4. His top areas of expertise are Mucolipidosis Type 4, Mucolipidosis 3, Sialidosis, and Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome).

      Advanced in Mucolipidosis Type 4
      Medical Genetics | Pediatrics
      Advanced in Mucolipidosis Type 4
      Medical Genetics | Pediatrics
      10 Center Dr, 10-crc, Room 5-2571, 
      Bethesda, MD 
      Languages Spoken:
      English

      Forbes Porter is a Medical Genetics specialist and a Pediatrics provider in Bethesda, Maryland. Dr. Porter is rated as an Advanced provider by MediFind in the treatment of Mucolipidosis Type 4. His top areas of expertise are Smith-Lemli-Opitz Syndrome, Niemann-Pick Disease, Reticulohistiocytoma, and X-Linked Creatine Deficiency.

      Advanced in Mucolipidosis Type 4
      Medical Genetics | Pediatrics
      Advanced in Mucolipidosis Type 4
      Medical Genetics | Pediatrics
      300 Pasteur Dr, H-315, 
      Stanford, CA 
      Languages Spoken:
      English

      Kristina Cusmano-Ozog is a Medical Genetics specialist and a Pediatrics provider in Stanford, California. Dr. Cusmano-Ozog is rated as an Advanced provider by MediFind in the treatment of Mucolipidosis Type 4. Her top areas of expertise are Maple Syrup Urine Disease, Mucolipidosis Type 4, Micrognathia, and Grix Blankenship Peterson Syndrome.

      Advanced in Mucolipidosis Type 4
      Medical Genetics
      Advanced in Mucolipidosis Type 4
      Medical Genetics
      3401 Civic Center Blvd, Division Of Medical Genetics And Genomics, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Xinying Hong is a Medical Genetics provider in Philadelphia, Pennsylvania. Dr. Hong is rated as an Advanced provider by MediFind in the treatment of Mucolipidosis Type 4. Her top areas of expertise are Krabbe Disease, Leukodystrophy, Mucopolysaccharidoses (MPS), and Multiple Sulfatase Deficiency.

      Advanced in Mucolipidosis Type 4
      Medical Genetics | Pediatrics
      Advanced in Mucolipidosis Type 4
      Medical Genetics | Pediatrics
      3401 Civic Center Blvd, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Parith Wongkittichote is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Wongkittichote is rated as an Advanced provider by MediFind in the treatment of Mucolipidosis Type 4. His top areas of expertise are Hypotonia, Dihydrolipoamide Dehydrogenase Deficiency, Glutaric Acidemia Type 1, and Multiple Sulfatase Deficiency.

      Advanced in Mucolipidosis Type 4
      Medical Genetics
      Advanced in Mucolipidosis Type 4
      Medical Genetics
      202 N Yellowstone Dr, 
      Madison, WI 
      Languages Spoken:
      English

      Richard Pauli is a Medical Genetics provider in Madison, Wisconsin. Dr. Pauli is rated as an Advanced provider by MediFind in the treatment of Mucolipidosis Type 4. His top areas of expertise are Achondroplasia, Spondyloepimetaphyseal Dysplasia Strudwick Type, X-Linked Spondyloepiphyseal Dysplasia Tarda, Adenoidectomy, and Myringotomy.

      Advanced in Mucolipidosis Type 4
      Medical Genetics | Pediatrics
      Advanced in Mucolipidosis Type 4
      Medical Genetics | Pediatrics

      University Family Physicians, Inc.

      550 University Blvd, 
      Indianapolis, IN 
      Languages Spoken:
      English
      Accepting New Patients

      Erin Conboy is a Medical Genetics specialist and a Pediatrics provider in Indianapolis, Indiana. Dr. Conboy is rated as an Advanced provider by MediFind in the treatment of Mucolipidosis Type 4. Her top areas of expertise are Hereditary Multiple Osteochondromas, Ectodermal Dysplasias, Clouston Syndrome, and Early Infantile Epileptic Encephalopathy. Dr. Conboy is currently accepting new patients.

      Advanced in Mucolipidosis Type 4
      Pediatrics | Medical Genetics
      Advanced in Mucolipidosis Type 4
      Pediatrics | Medical Genetics
      300 Longwood Ave, Fegan 10, 
      Boston, MA 
      Languages Spoken:
      English

      Fowzan Alkuraya is a Pediatrics specialist and a Medical Genetics provider in Boston, Massachusetts. Dr. Alkuraya is rated as an Advanced provider by MediFind in the treatment of Mucolipidosis Type 4. His top areas of expertise are Achalasia Microcephaly Syndrome, Microcephaly, Early Infantile Epileptic Encephalopathy, Cortical Dysplasia, and Vitrectomy.

      Advanced in Mucolipidosis Type 4
      Medical Genetics | Pediatrics
      Advanced in Mucolipidosis Type 4
      Medical Genetics | Pediatrics
      4800 Sand Point Way Ne, 
      Seattle, WA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Michael Bamshad is a Medical Genetics specialist and a Pediatrics provider in Seattle, Washington. Dr. Bamshad is rated as an Advanced provider by MediFind in the treatment of Mucolipidosis Type 4. His top areas of expertise are Distal Arthrogryposis Type 6, Distal Arthrogryposis, Arthrogryposis Multiplex Congenita, and Congenital Contractures. Dr. Bamshad is currently accepting new patients.

      Roger E. Stevenson
      Experienced in Mucolipidosis Type 4
      Medical Genetics
      Experienced in Mucolipidosis Type 4
      Medical Genetics

      Greenwood Genetic Center– Greenwood

      106 Gregor Mendel Circle, 
      Greenwood, SC 
      Languages Spoken:
      English
      Accepting New Patients

      Roger Stevenson is a Medical Genetics provider in Greenwood, South Carolina. Dr. Stevenson is rated as an Experienced provider by MediFind in the treatment of Mucolipidosis Type 4. His top areas of expertise are Micrognathia, Phocomelia, VACTERL Association, and FG Syndrome. Dr. Stevenson is currently accepting new patients.

      Ian D. Krantz
      Experienced in Mucolipidosis Type 4
      Medical Genetics
      Experienced in Mucolipidosis Type 4
      Medical Genetics

      Cohen Children's Northwell Health Physician Partners Medical Genetics

      225 Community Drive, Suite 110, 
      Great Neck, NY 
      Languages Spoken:
      English

      Dr. Ian Daniel Krantz, MD, is a renowned physician specializing in Genetics and Pediatrics. He currently sees patients at Cohen Children's Medical Center (CCMC) and Northwell Health Physician Partners Medical Genetics. Dr. Krantz holds certifications in Clinical Genetics, Cytogenetics, and Pediatrics from the American Board of Medical Genetics and the American Board of Pediatrics, respectively.Dr. Krantz completed his BFA at Concordia University in Montreal and his MD at Sackler School of Medicine (Tel Aviv University). He completed his residency in Medical Genetics at Children's Hospital of Philadelphia and his residency in Pediatrics at New York University Medical Center.With an impressive set of academic and administrative titles, Dr. Krantz serves as the Division Chief of Pediatric Genetics and Genomics at Cohen Children's Medical Center and is the System Vice President for Pediatric Genetics at Northwell Health. Additionally, he holds the position of Professor at the Zucker School of Medicine at Northwell Health.Dr. Krantz is recognized for his clinical expertise in isolated and syndromic forms of congenital birth differences and developmental diagnoses, including syndromic and non-syndromic autism. He has a special interest in the genetics of hearing loss and focused expertise in Cornelia de Lange Syndrome, Pallister-Killian syndrome, Alagille syndrome, CHOPS syndrome, among others.Dr. Krantz's research is dedicated to identifying and characterizing the molecular etiology of syndromic and non-syndromic developmental diagnoses. His research lab has made significant contributions in the field, discovering new disease genes and shedding light on critical molecular pathways involved in human developmental disorders.Driven by his commitment to advancing patient care, Dr. Krantz has been at the forefront of integrating genomic technologies into the clinical setting. He has implemented rapid genome sequencing into the NICU and CICU and established biobanks and biorepositories to further research efforts. Through his work, he aims to understand the impact of complex diagnostic information on clinicians and families involved.With his extensive expertise and dedication to advancing genetic research and patient care, Dr. Krantz continues to make significant contributions to the field of Pediatrics and Genetics. Dr. Krantz is rated as an Experienced provider by MediFind in the treatment of Mucolipidosis Type 4. His top areas of expertise are Cornelia De Lange Syndrome, Pallister-Killian Mosaic Syndrome, Mosaicism, and KBG Syndrome.

      Experienced in Mucolipidosis Type 4
      Medical Genetics | Pediatrics
      Experienced in Mucolipidosis Type 4
      Medical Genetics | Pediatrics
      725 Irving Ave, Suite 110, 
      Syracuse, NY 
      Languages Spoken:
      English

      Robert Lebel is a Medical Genetics specialist and a Pediatrics provider in Syracuse, New York. Dr. Lebel is rated as an Experienced provider by MediFind in the treatment of Mucolipidosis Type 4. His top areas of expertise are Crouzon Syndrome, Imperforate Anus, Micrognathia, and Hypotonia.

      Experienced in Mucolipidosis Type 4
      Medical Genetics | Pediatrics
      Experienced in Mucolipidosis Type 4
      Medical Genetics | Pediatrics
      10 Center Drive Msc 1851, Bldg. 10, Room 10c-103, Nhgri, Nih, 
      Bethesda, MD 
      Languages Spoken:
      English

      William Gahl is a Medical Genetics specialist and a Pediatrics provider in Bethesda, Maryland. Dr. Gahl is rated as an Experienced provider by MediFind in the treatment of Mucolipidosis Type 4. His top areas of expertise are Oculocutaneous Albinism Type 2, Hermansky-Pudlak Syndrome, Oculocutaneous Albinism Type 1, Oculocutaneous Albinism, and Deep Brain Stimulation.

      Experienced in Mucolipidosis Type 4
      Medical Genetics
      Experienced in Mucolipidosis Type 4
      Medical Genetics
      351a213 Convent Dr, 
      Bethesda, MD 
      Languages Spoken:
      English

      Ellen Sidransky is a Medical Genetics provider in Bethesda, Maryland. Dr. Sidransky is rated as an Experienced provider by MediFind in the treatment of Mucolipidosis Type 4. Her top areas of expertise are Gaucher Disease, Gaucher Disease Type 2, Gaucher Disease Type 3, and Farber Lipogranulomatosis.

      Experienced in Mucolipidosis Type 4
      Psychiatry | Hospital Medicine | Medical Genetics
      Experienced in Mucolipidosis Type 4
      Psychiatry | Hospital Medicine | Medical Genetics

      Apogee Medical Group Georgia

      705 Dixie St, 
      Carrollton, GA 
      Languages Spoken:
      English, Hindi, Spanish, Urdu
      Accepting New Patients
      Offers Telehealth

      Muhammad Pervaiz is a Psychiatrist and a Hospital Medicine provider in Carrollton, Georgia. Dr. Pervaiz is rated as an Experienced provider by MediFind in the treatment of Mucolipidosis Type 4. His top areas of expertise are Ehlers-Danlos Syndrome (EDS), Mucolipidosis Type 4, Delirium, Hip Replacement, and Endoscopy. Dr. Pervaiz is currently accepting new patients.

      Showing 1-20 of 29

      Last Updated: 10/30/2025

      What is the definition of Mucolipidosis Type 4?

      Mucolipidosis type 4 is a metabolic condition that affects the body's ability to process certain carbohydrates and fats. As a result, these materials accumulate in cells leading to the various signs and symptoms of the condition. Most people with Mucolipidosis type 4 develop severe psychomotor (mental and motor skills) delay and visual impairment. Other common features of the condition include limited or absent speech; intellectual disability; hypotonia that gradually progresses to spasticity; problems controlling hand movements; impaired production of stomach acids; and iron deficiency. Approximately 5% of affected people have a mild form of the condition (known as atypical Mucolipidosis type 4) which is associated with milder psychomotor delay and less severe eye abnormalities. Mucolipidosis type 4 is caused by changes in the MCOLN1 gene and is inherited in an autosomal recessive manner.

      When should I see a Mucolipidosis Type 4 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 Mucolipidosis Type 4 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 Mucolipidosis Type 4 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 Mucolipidosis Type 4 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 Mucolipidosis Type 4 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 Mucolipidosis Type 4 doctor search results page. 

      Why is it important to get a second opinion from a different Mucolipidosis Type 4 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 Mucolipidosis Type 4 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 Mucolipidosis Type 4 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 Mucolipidosis Type 4 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 Mucolipidosis Type 4 doctors in The United States?

      Look for the filter feature on the left side of the Mucolipidosis Type 4 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 Mucolipidosis Type 4 doctor that offers video calls?

      Look for the filter feature on the left-side of the Mucolipidosis Type 4 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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