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12 Result(s)

ORPHA:137  Congenital disorder of glycosylation

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ORPHA:79062  Disorder of amino acid and other organic acid metabolism

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ORPHA:308467  Disorder of galactose metabolism

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ORPHA:79224  Disorder of purine or pyrimidine metabolism

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ORPHA:79201  Glycogen storage disease

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ORPHA:68380  Mitochondrial disease

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ORPHA:79213  Mucopolysaccharidosis

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ORPHA:79189  Peroxisome biogenesis disorder

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ORPHA:254746  Pyruvate metabolism disorder

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ORPHA:68367  Rare inborn errors of metabolism

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ORPHA:79225  Sphingolipidosis

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ORPHA:43  X-linked adrenoleukodystrophy

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