Diagnosis of glutathione synthetase deficiency in newborn screening

By Simon E.   Vogel M.   Fingerhut R.   Ristoff E.   Mayatepek E.   Spiekerkötter U.  

Journal of Inherited Metabolic Disease, Vol. 32, Iss. 1, 2009-12 ,pp. : 269-272

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Glutathione synthetase deficiency associated with antenatal cerebral bleeding

By Brüggemann L. W.   Groenendaal F.   Ristoff E.   Larsson A.   Duran M.   van Lier J. A. C.   Dorland L.   Berger R.   de Koning T. J.  

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Aromatic l-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up

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Journal of Inherited Metabolic Disease, Vol. 32, Iss. 3, 2009-06 ,pp. : 371-380

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The third case of Doss porphyria (δ-amino-levulinic acid dehydratase deficiency) in Germany

By Doss M.   Stauch T.   Gross U.   Renz M.   Akagi R.   Doss-Frank M.   Seelig H.   Sassa S.  

Journal of Inherited Metabolic Disease, Vol. 27, Iss. 4, 2004-07 ,pp. : 529-536

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

By Ristoff E.   Burstedt M.   Larsson A.   Wachtmeister L.  

Journal of Inherited Metabolic Disease, Vol. 30, Iss. 1, 2007-02 ,pp. : 102-102

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