RareWays is a research directory. It helps you understand the science. It is not medical advice. Always discuss your care options with your healthcare team.
Coverage: all available years, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Schindler Disease: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Concurrent GM1 Gangliosidosis and Schindler Disease: A Unique Case of Two Rare Lysosomal Storage Disorders in a Single Infant
Ikesinachi Osuorah et al. (16 July 2024)
https://doi.org/10.22541/au.172115203.34235787/v1
- 2.
Schindler disease type III: Clinical presentation of a patient carrying the homozygous missense variant c.973G > A (p.E325K) in the NAGA gene
Luise Förster et al., Molecular Genetics and Metabolism (1 February 2023)
https://doi.org/10.1016/j.ymgme.2022.107104
- 3.
Long-term follow-up in an adult patient with Schindler disease
Kinza Noman et al., Molecular Genetics and Metabolism (1 February 2022)
https://doi.org/10.1016/j.ymgme.2021.11.230
- 4.
A New Case of Schindler Disease.
Castro Ruben García et al., European journal of case reports in internal medicine (1 January 2019)
https://pubmed.ncbi.nlm.nih.gov/31890708/
- 5.
A case of Schindler disease in the setting of familial cardiomyopathy
Damara N. Ortiz et al., Molecular Genetics and Metabolism (1 February 2018)
https://doi.org/10.1016/j.ymgme.2017.12.295
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Schindler Disease
Schindler disease is a very rare inherited condition caused by a lack of the enzyme alpha-N-acetylgalactosaminidase, which lets sugar-protein compounds build up inside cells. It can range from severe neurological problems beginning in infancy to milder adult-onset forms with skin lesions. There is no specific treatment, so care focuses on managing symptoms and supportive therapies.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Schindler Disease is very rare and little research has been published, so this page includes research from every year, including case reports about individual patients. Case reports are marked, and describe one person's experience rather than tested results.
Most Recent Research
Common Questions
What is Schindler Disease?
Schindler disease is a very rare inherited condition caused by a lack of the enzyme alpha-N-acetylgalactosaminidase, which lets sugar-protein compounds build up inside cells. It can range from severe neurological problems beginning in infancy to milder adult-onset forms with skin lesions. There is no specific treatment, so care focuses on managing symptoms and supportive therapies.
How many clinical trials are available for Schindler Disease?
No clinical trials are currently indexed for Schindler Disease. This may change as new trials are registered. Check back regularly or visit ClinicalTrials.gov directly.
Where does the research data for Schindler Disease come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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This information is for general awareness only.
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