Pyrimidine metabolism in hereditary orotic aciduria

By Sumi S.   Suchi M.   Kidouchi K.   Morishita H.   Ohba S.   Wada Y.  

Journal of Inherited Metabolic Disease, Vol. 20, Iss. 1, 1997-01 ,pp. : 104-105

Springer Publishing Company

Access to resources Recommend Favorite

Fatal neonatal malonic aciduria

By Buyukgebiz B.   Jakobs C.   Scholte H.R.   Huijmans J.G.M.   Kleijer W.J.  

Journal of Inherited Metabolic Disease, Vol. 21, Iss. 1, 1998-01 ,pp. : 76-77

Springer Publishing Company

Access to resources Recommend Favorite

‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry

By Dionisi-Vici Carlo   Deodato Federica   Röschinger Wulf   Rhead William   Wilcken Bridget  

Journal of Inherited Metabolic Disease, Vol. 29, Iss. 2-3, 2006-04 ,pp. : 383-389

Springer Publishing Company

Access to resources Recommend Favorite

Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria

By Pedersen Christina   Zolkipli Zarazuela   Vang Søren   Palmfeldt Johan   Kjeldsen Margrethe   Stenbroen Vibeke   Schmidt Stinne   Wanders Ronald   Ruiter Jos   Wibrand Flemming   Tein Ingrid   Gregersen Niels  

Journal of Inherited Metabolic Disease, Vol. 33, Iss. 3, 2010-06 ,pp. : 211-222

Springer Publishing Company

Access to resources Recommend Favorite

Peripheral neuropathy in a patient with d-2-hydroxyglutaric aciduria

By Haliloglu G.   Temucin C.   Oguz K.   Celiker A.   Coskun T.   Sass J.   Fischer J.   Topcu M.  

Journal of Inherited Metabolic Disease, Vol. 32, Iss. 1, 2009-12 ,pp. : 21-25

Springer Publishing Company

Access to resources Recommend Favorite