Prenatal diagnosis by amniocentesis and chorionic villus biopsy of mtDNA mutation 8993T > G

By Pettman R.   Hurley T.   Addis J.   Robinson B.   Scott H.   Kronick J.  

Journal of Inherited Metabolic Disease, Vol. 30, Iss. 3, 2007-06 ,pp. : 404-404

Springer Publishing Company

Access to resources Recommend Favorite

Gastric aspirate shake test for diagnosis of surfactant deficiency in neonates with respiratory distress

By Chaudhari R.   Deodhar J.   Kadam S.   Bavdekar A.   Pandit A.  

Annals of Tropical Paediatrics, Vol. 25, Iss. 3, 2005-09 ,pp. : 205-209

Maney Publishing

Access to resources Recommend Favorite

New haplotype for the Glu104Asp mutation in triose-phosphate isomerase deficiency and prenatal diagnosis in a Spanish family

By Repiso A.   Corrons J.   Vulliamy T.   Killeen N.   Layton M.   Carreras J.   Climent F.  

Journal of Inherited Metabolic Disease, Vol. 28, Iss. 5, 2005-09 ,pp. : 807-809

Springer Publishing Company

Access to resources Recommend Favorite

Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies

By Funghini S.   Morrone A.   Pasquini E.   Zammarchi E.   Donati M.  

Journal of Inherited Metabolic Disease, Vol. 28, Iss. 5, 2005-09 ,pp. : 801-802

Springer Publishing Company

Access to resources Recommend Favorite

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases

By Martins Esmeralda   Cardoso M.   Rodrigues Esmeralda   Barbot Clara   Ramos Altina   Bennett Michael   Teles Elisa   Vilarinho Laura  

Journal of Inherited Metabolic Disease, Vol. 34, Iss. 3, 2011-06 ,pp. : 835-842

Springer Publishing Company

Access to resources Recommend Favorite