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Cystinosis (Fanconi syndrome)
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Homocystinuria
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Maple syrup urine disease
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Phenylketonuria
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Albinism
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Alkaptonuria
-
Cystinuria
-
Hartnup disease
-
Galactossaemia
-
Glysogen storage diseases
-
Mucopolysaccharidoses
-
Gaucher disease
-
Niemann-Pick disease
-
Tay-Sachs disease
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Hyperlipidaemia / Hypercholesterolaemia
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Hyperuricaemia
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Subacute necrotising encephalomyelopathy (Leigh
encephalopathy)
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Orotic aciduria
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Acrodermatitis enteropathica
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Menkes kinky hair syndrome
-
Wilson
disease
-
Adrenoleukodystrophy
-
Chondrodysplasia punctata
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Zellweger syndrome
-
Porphyrias
-
Urea cycle defects