Ornithine transcarbamylase deficiency in pregnancy

By Cordero D.   Baker J.   Dorinzi D.   Toffle R.  

Journal of Inherited Metabolic Disease, Vol. 28, Iss. 2, 2005-04 ,pp. : 237-240

Springer Publishing Company

Access to resources Recommend Favorite

Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential

By Arranz J.   Riudor E.   Marco-Marín C.   Rubio V.  

Journal of Inherited Metabolic Disease, Vol. 30, Iss. 2, 2007-04 ,pp. : 217-226

Springer Publishing Company

Access to resources Recommend Favorite

LATE ONSET ORNITHINE TRANSCARBAMYLASE DEFICIENCY: A CASE REPORT

By Fessatou S.  

Pediatric Pathology & Molecular Medicine, Vol. 22, Iss. 2, 2003-03 ,pp. : 153-157

Informa Healthcare

Access to resources Recommend Favorite

Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation

By Cleary M.   Dorland L.   Koning T.   Poll-The B.   Duran M.   Mandell R.   Shih V.   Berger R.   Olpin S.   Besley G.  

Journal of Inherited Metabolic Disease, Vol. 28, Iss. 5, 2005-09 ,pp. : 673-679

Springer Publishing Company

Access to resources Recommend Favorite

Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings

By Soares-Fernandes João   Teixeira-Gomes Roseli   Cruz Romeu   Ribeiro Manuel   Magalhães Zita   Rocha Jaime   Leijser Lara  

Pediatric Radiology, Vol. 38, Iss. 5, 2008-05 ,pp. : 559-562

Springer Publishing Company

Access to resources Recommend Favorite