Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency

By Olpin S.   Clark S.   Andresen B.   Bischoff C.   Olsen R.   Gregersen N.   Chakrapani A.   Downing M.   Manning N.   Sharrard M.   Bonham J.   Muntoni F.   Turnbull D.   Pourfarzam M.  

Journal of Inherited Metabolic Disease, Vol. 28, Iss. 4, 2005-06 ,pp. : 533-544

Springer Publishing Company

Access to resources Recommend Favorite

Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: Early-onset necrotizing encephalopathy with lethal outcome

By Baykal T.   Gokcay G.   Ince Z.   Dantas M.   Fowler B.   Baumgartner M.   Demir F.   Can G.   Demirkol M.  

Journal of Inherited Metabolic Disease, Vol. 28, Iss. 2, 2005-04 ,pp. : 229-233

Springer Publishing Company

Access to resources Recommend Favorite

Early-onset hyperargininaemia: A severe disorder?

By Schiff M.   Benoist J.-F.   Cardoso M.   Elmaleh-Bergès M.   Forey P.   Santiago J.   Ogier de Baulny H.  

Journal of Inherited Metabolic Disease, Vol. 32, Iss. 1, 2009-12 ,pp. : 175-178

Springer Publishing Company

Access to resources Recommend Favorite

A case of mitochondrial trifunctional protein deficiency diagnosed by acylcarnitine profile and DNA analysis in a dried blood spot of a 4-day-old boy

By Lee J.   Yoon H.   Paik K.   Hwang S.   Shim J.   Chang Y.   Park W.   Strauss A.   Jin D.  

Journal of Inherited Metabolic Disease, Vol. 26, Iss. 4, 2003-06 ,pp. : 403-406

Springer Publishing Company

Access to resources Recommend Favorite

Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder

By Spaapen L.   Bakker J.   Meer S.   Sijstermans H.   Steet R.   Wevers R.   Jaeken J.  

Journal of Inherited Metabolic Disease, Vol. 28, Iss. 5, 2005-09 ,pp. : 707-714

Springer Publishing Company

Access to resources Recommend Favorite