Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency

By Ostergaard E.   Moller L.   Kalkanoglu-Sivri H.   Dursun A.   Kibaek M.   Thelle T.   Christensen E.   Duno M.   Wibrand F.  

Journal of Inherited Metabolic Disease, Vol. 32, Iss. 1, 2009-12 ,pp. : 235-239

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

A Unique Case of Renal Carcinoma with Xp11.2 Translocations/ TFE3 Gene Fusions in a 3-Year-old Child, with Coexistent von Hippel-Lindau Gene Mutation

By Parast Mana M.  

Pediatric and Developmental Pathology, Vol. 7, Iss. 4, 2004-04 ,pp. : 403-406

Springer Publishing Company

Access to resources Recommend Favorite

Multiple pheochromocytomas and paragangliomas in a young patient carrying a SDHD gene mutation

By Novosel Astrid   Heger Alfred   Lohse Peter   Schmidt Heinrich  

European Journal of Pediatrics, Vol. 163, Iss. 12, 2004-12 ,pp. : 701-703

Springer Publishing Company

Access to resources Recommend Favorite

An abdominal mass owing to Penicillium marneffei in an HIV-infected 7-year-old boy: case report

By Othman N.   Yip C. W.   Intan H. I.   Zainuddin Z.   Amran F.  

Annals of Tropical Paediatrics, Vol. 26, Iss. 3, 2006-09 ,pp. : 259-262

Maney Publishing

Access to resources Recommend Favorite