Related content

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

Effects of a fat load and exercise on asymptomatic VLCAD deficiency

By Spiekerkoetter U.  

Journal of Inherited Metabolic Disease, Vol. 30, Iss. 3, 2007-06 ,pp. : 405-405

Springer Publishing Company

Access to resources Recommend Favorite

Neonatal screening for biotinidase deficiency in Hungary: Clinical, biochemical and molecular studies

By László Á.   Schuler É. Á.   Sallay É.   Endreffy E.   Somogyi Cs.   Várkonyi Á.   Havass Z.   Jansen K. P.   Wolf B.   Wolf B.  

Journal of Inherited Metabolic Disease, Vol. 26, Iss. 7, 2003-01 ,pp. : 693-698

Springer Publishing Company

Access to resources Recommend Favorite

The Clinical Findings and Prophylactic Treatment in Children with Factor X Deficiency

By Karabel Müsemma   Söker Murat   Yıldırım Aysen Türedi   Oymak Yeşim   Kelekçi Selvi   Karabel Duran  

Pediatric Hematology and Oncology, Vol. 30, Iss. 8, 2013-11 ,pp. : 717-722

Informa Healthcare

Access to resources Recommend Favorite

Homocystinuria due to cystathionine β-synthase deficiency: Novel biochemical findings and treatment efficacy

By Orendáč M.   Zeman J.   Stabler S. P.   Allen R. H.   Kraus J. P.   Bodamer O.   Stöckler-Ipsiroglu S.   Kvasnička J.   Kožich V.  

Journal of Inherited Metabolic Disease, Vol. 26, Iss. 8, 2003-01 ,pp. : 761-773

Springer Publishing Company

Access to resources Recommend Favorite