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

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

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

By Mayatepek E.   Meissner T.   Gröbe H.  

Journal of Inherited Metabolic Disease, Vol. 27, Iss. 2, 2004-01 ,pp. : 297-299

Springer Publishing Company

Access to resources Recommend Favorite

Cerebral folate deficiency

By Hyland Keith   Shoffner John   Heales Simon  

Journal of Inherited Metabolic Disease, Vol. 33, Iss. 5, 2010-10 ,pp. : 563-570

Springer Publishing Company

Access to resources Recommend Favorite

Inborn error of amino acid synthesis: Human glutamine synthetase deficiency

By Häberle Johannes   Görg Boris   Toutain Annick   Rutsch Frank   Benoist Jean-François   Gelot Antoinette   Suc Annie-Laure   Koch Hans   Schliess Freimut   Häussinger Dieter  

Journal of Inherited Metabolic Disease, Vol. 29, Iss. 2-3, 2006-04 ,pp. : 352-358

Springer Publishing Company

Access to resources Recommend Favorite