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Schindler disease

Also known as Kanzaki disease and Alpha-N-acetylgalactosaminidase deficiency is a rare congenital metabolic disorder in humans. Schindler disease was named after Detlev Schindler M.D., the first author of a 1988 paper detailing the disease. Schindler disease is an autosomal recessive disorder, meaning that one must inherit an abnormal allele from both parents in order to have the disease. Infants with Schindler disease tend to die within 4 years of birth, therefore, treatment for this form of the disease is mostly palliative.

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