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Excised corneas of MPS I patients show characteristic epithelial changes, disruption or breaks in Bowman's membrane, and amphophilic collections of stromal granular mucopolysaccharides. These changes should alert the pathologist to the possibility of an underlying lysosomal storage disorder.

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I-PAS Academy 2026

İ-PAS Academy 2026 will be held between October 1–4, 2026, at the Hilton Dalaman Sarıgerme Resort & Spa.

18th International Congress on Metabolic Diseases and Nutrition

18th International Congress on Metabolic Diseases and Nutrition will be held between April 27 and May 1, 2026.

ESHG 2026

ESHG 2026, European Conference on Human Genetics, will be held in Gothenburg, Sweden.

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Gene2info provides genetic diagnoce service for 23 of rare diseases

Gene2info has an end-to-end service solution for rapid diagnosis of rare diseases via genetic testing. The solution cove...

Rare Diseases

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