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

Springer Publishing Company

Access to resources Recommend Favorite

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.  

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

Springer Publishing Company

Access to resources Recommend Favorite

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

Springer Publishing Company

Access to resources Recommend Favorite

Glutathione deficiency in patients with mitochondrial disease: Implications for pathogenesis and treatment

By Hargreaves I.   Sheena Y.   Land J.   Heales S.  

Journal of Inherited Metabolic Disease, Vol. 28, Iss. 1, 2005-01 ,pp. : 81-88

Springer Publishing Company

Access to resources Recommend Favorite

Tetrahydrobiopterin availability, nitric oxide metabolism and glutathione status in the hph-1 mouse; implications for the pathogenesis and treatment of tetrahydrobiopterin deficiency states

By Lam A.   Hyland K.   Heales S.  

Journal of Inherited Metabolic Disease, Vol. 30, Iss. 2, 2007-04 ,pp. : 256-262

Springer Publishing Company

Access to resources Recommend Favorite