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Journal of Inherited Metabolic Disease, Vol. 27, Iss. 2, 2004-01 ,pp. : 275-276

Springer Publishing Company

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Progressive retinal dystrophy in two sisters with glutathione synthetase (GS) deficiency

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Acute metabolic crisis with extreme deficiency of glutathione in combination with decreased CSF levels of leukotriene C₄ in a patient with glutathione synthetase deficiency

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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: A global perspective

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