Menu

The role of oxidative damage in the neuropathology of organic acidurias: Insights from animal studies

By Wajner M.,Latini A.,Wyse A.,Dutra-Filho C. in (2004)

Springer Publishing Company

Abstract Access to resources Recommend Favorite

Efficiency of long-term tetrahydrobiopterin monotherapy in phenylketonuria

By Steinfeld R.,Kohlschütter A.,Ullrich K.,Lukacs Z. in (2004)

Springer Publishing Company

Abstract Access to resources Recommend Favorite

GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations

By Garavaglia B.,Invernizzi F.,Carbone M.,Viscardi V.,Saracino F.,Ghezzi D.,Zeviani M.,Zorzi G.,Nardocci N. in (2004)

Springer Publishing Company

Abstract Access to resources Recommend Favorite

Pseudo-glutarylcarnitinaemia in medium-chain acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry newborn screening

By Napolitano N.,Wiley V.,Pitt J. in (2004)

Springer Publishing Company

Abstract Access to resources Recommend Favorite

OCTN2 mutation (R254X) found in Saudi Arabian kindred: Recurrent mutation or ancient founder mutation?

By Lamhonwah A.-M.,Onizuka R.,Olpin S.,Muntoni F.,Tein I. in (2004)

Springer Publishing Company

Abstract Access to resources Recommend Favorite

Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex

By Ramadan D.,Head R.,Al-Tawari A.,Habeeb Y.,Zaki M.,Al-Ruqum F.,Besley G.,Wraith J.,Brown R.,Brown G. in (2004)

Springer Publishing Company

Abstract Access to resources Recommend Favorite

Effect of high-dose vitamins, coenzyme Q and high-fat diet in paediatric patients with mitochondrial diseases

By Panetta J.,Smith L.,Boneh A. in (2004)

Springer Publishing Company

Abstract Access to resources Recommend Favorite

Relief of gastrointestinal symptoms under enzyme replacement therapy in patients with Fabry disease

By Dehout F.,Roland D.,de Granseigne S.,Guillaume B.,Van Maldergem L. in (2004)

Springer Publishing Company

Abstract Access to resources Recommend Favorite

Pseudo-lysosomal storage disease caused by EMLA cream

By Vallance H.,Chaba T.,Clarke L.,Taylor G. in (2004)

Springer Publishing Company

Abstract Access to resources Recommend Favorite

Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency

By Enns G.,Barkovich A.,van Kuilenburg A.,Manning M.,Sanger T.,Witt D.,van Gennip A. in (2004)

Springer Publishing Company

Abstract Access to resources Recommend Favorite