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

Human neuronal coenzyme Q 10 deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: implications for pathogenesis and treatment

By Duberley Kate  

Journal of Inherited Metabolic Disease, Vol. 36, Iss. 1, 2013-01 ,pp. : 63-73

Springer Publishing Company

Access to resources Recommend Favorite

Increasing fat in the diet does not improve muscle performance in patients with mitochondrial myopathy due to complex I deficiency

By Meer K.   Roef M.   Klerk J.   Bakker H.   Smit G.   Poll-The B.  

Journal of Inherited Metabolic Disease, Vol. 28, Iss. 1, 2005-01 ,pp. : 95-98

Springer Publishing Company

Access to resources Recommend Favorite

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