Literature DB >> 6034241

Further observations on the biochemical lesion in maple syrup urine disease.

P M Dreyfus, A L Prensky.   

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Year:  1967        PMID： 6034241     DOI： 10.1038/214276a0

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


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  7 in total

1.  Peritoneal dialysis in maple-syrup-urine disease: studies on branched-chain amino and keto acids.

Authors:  U Wendel; K Becker; H Przyrembel; M Bulla; C Manegold; A Mench-Hoinowski; U Langenbeck
Journal:  Eur J Pediatr       Date:  1980-06       Impact factor: 3.183

2.  Branched chain amino acids induce apoptosis in neural cells without mitochondrial membrane depolarization or cytochrome c release: implications for neurological impairment associated with maple syrup urine disease.

Authors:  P Jouvet; P Rustin; D L Taylor; J M Pocock; U Felderhoff-Mueser; N D Mazarakis; C Sarraf; U Joashi; M Kozma; K Greenwood; A D Edwards; H Mehmet
Journal:  Mol Biol Cell       Date:  2000-05       Impact factor: 4.138

3.  Inhibition by the branched-chain 2-oxo acids of the 2-oxoglutarate dehydrogenase complex in developing rat and human brain.

Authors:  M S Patel
Journal:  Biochem J       Date:  1974-10       Impact factor: 3.857

4.  Biochemical correlates of neuropsychiatric illness in maple syrup urine disease.

Authors:  Emilie R Muelly; Gregory J Moore; Scott C Bunce; Julie Mack; Don C Bigler; D Holmes Morton; Kevin A Strauss
Journal:  J Clin Invest       Date:  2013-03-08       Impact factor: 14.808

5.  Kinetic properties of the partially purified pyruvate dehydrogenase complex of ox brain.

Authors:  J P Blass; C A Lewis
Journal:  Biochem J       Date:  1973-01       Impact factor: 3.857

6.  Differential effects of 2-oxo acids on pyruvate utilization and fatty acid synthesis in rat brain.

Authors:  J B Clark; J M Land
Journal:  Biochem J       Date:  1974-04       Impact factor: 3.857

7.  Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.

Authors:  Yohan Soreze; Audrey Boutron; Florence Habarou; Christine Barnerias; Luc Nonnenmacher; Hélène Delpech; Asmaa Mamoune; Dominique Chrétien; Laurence Hubert; Christine Bole-Feysot; Patrick Nitschke; Isabelle Correia; Claude Sardet; Nathalie Boddaert; Yamina Hamel; Agnès Delahodde; Chris Ottolenghi; Pascale de Lonlay
Journal:  Orphanet J Rare Dis       Date:  2013-12-17       Impact factor: 4.123
  7 in total

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