Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy

By Waller Simon   Kurzawinski Tom   Spitz Lewis   Thakker Rajesh   Cranston Treena   Pearce Simon   Cheetham Tim   Hoff William  

European Journal of Pediatrics, Vol. 163, Iss. 10, 2004-10 ,pp. : 589-594

Springer Publishing Company

Access to resources Recommend Favorite

Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene

By Van Hove Johan  

European Journal of Pediatrics, Vol. 167, Iss. 7, 2008-07 ,pp. : 771-776

Springer Publishing Company

Access to resources Recommend Favorite

A Case of Sporadic Infantile Histiocytoid Cardiomyopathy Caused by the A8344G (MERRF) Mitochondrial DNA Mutation

By Vallance H.   Jeven G.   Wallace D.   Brown M.  

Pediatric Cardiology, Vol. 25, Iss. 5, 2004-09 ,pp. : 538-540

Springer Publishing Company

Access to resources Recommend Favorite

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

By Dionisi-Vici C.   Seneca S.   Zeviani M.   Fariello G.   Rimoldi M.   Bertini E.   de Meirleir L.  

Journal of Inherited Metabolic Disease, Vol. 21, Iss. 1, 1998-01 ,pp. : 2-8

Springer Publishing Company

Access to resources Recommend Favorite

A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues

By degoul F.   François D.   Diry M.   Ponsot G.   desguerre I.   Héron B.   Marsac C.   Moutard M.L.  

Journal of Inherited Metabolic Disease, Vol. 20, Iss. 1, 1997-01 ,pp. : 49-53

Springer Publishing Company

Access to resources Recommend Favorite