Literature DB >> 14281543

AMINOACIDURIA.

M L EFRON.   

Abstract

Keywords:  AMINO ACID METABOLISM, INBORN ERRORS; AMINOACIDURIA, RENAL; DIAGNOSIS; GLYCINE; LEUCINE; MAPLE SYRUP URINE DISEASE; PHENYLKETONURIA; REVIEW; TYROSINE; VALINE

Mesh：

Substances：

Year:  1965        PMID： 14281543     DOI： 10.1056/NEJM196505202722006

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  12 in total

1.  Creatine and antioxidant treatment prevent the inhibition of creatine kinase activity and the morphological alterations of C6 glioma cells induced by the branched-chain alpha-keto acids accumulating in maple syrup urine disease.

Authors:  Cláudia Funchal; Patrícia Fernanda Schuck; André Quincozes Dos Santos; Maria Caroline Jacques-Silva; Carmem Gottfried; Regina Pessoa-Pureur; Moacir Wajner
Journal:  Cell Mol Neurobiol       Date:  2006-02       Impact factor: 5.046

2.  Alpha-ketoisocaproic acid increases phosphorylation of intermediate filament proteins from rat cerebral cortex by mechanisms involving Ca2+ and cAMP.

Authors:  Cláudia Funchal; Ariane Zamoner; André Quincozes dos Santos; Samanta Oliveira Loureiro; Moacir Wajner; Regina Pessoa-Pureur
Journal:  Neurochem Res       Date:  2005-09       Impact factor: 3.996

3.  Cystinuria with mental retardation and paroxysmal dyskinesia in 2 brothers.

Authors:  N P Cavanagh; J Bicknell; F Howard
Journal:  Arch Dis Child       Date:  1974-08       Impact factor: 3.791

4.  Iminoglycinuria--a "harmless" inborn error of metabolism?

Authors:  G R Fraser; A I Friedmann; V M Patton; D N Wade; L I Woolf
Journal:  Humangenetik       Date:  1968

5.  Morphological alterations and cell death provoked by the branched-chain alpha-amino acids accumulating in maple syrup urine disease in astrocytes from rat cerebral cortex.

Authors:  Cláudia Funchal; Carmem Gottfried; Lúcia Maria Vieira de Almeida; André Quincozes dos Santos; Moacir Wajner; Regina Pessoa-Pureur
Journal:  Cell Mol Neurobiol       Date:  2005-08       Impact factor: 5.046

6.  Complementation analysis in lymphoid cells from five patients with different forms of maple syrup urine disease.

Authors:  Y Jinno; I Akaboshi; I Matsuda
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

7.  Homozygous cystinuria and the oculo-cerebro-renal dystrophy of Lowe in same family.

Authors:  R R Bailey; R W Carrell; F T Shannon
Journal:  Arch Dis Child       Date:  1976-07       Impact factor: 3.791

8.  Study on established lymphoid cells in maple syrup urine disease. Correlation with clinical heterogeneity.

Authors:  Y Jinno; I Akaboshi; T Katsuki; I Matsuda
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

9.  Effect of the branched-chain alpha-ketoacids accumulating in maple syrup urine disease on the high molecular weight neurofilament subunit (NF-H) in rat cerebral cortex.

Authors:  R Pessoa-Pureur; C Funchal; P de Lima Pelaez; L Vivian; S Oliveira Loureiro; R de Freitas Miranda; M Wajner
Journal:  Metab Brain Dis       Date:  2002-06       Impact factor: 3.584

10.  Inhibition of brain energy metabolism by the branched-chain amino acids accumulating in maple syrup urine disease.

Authors:  César A Ribeiro; Angela M Sgaravatti; Rafael B Rosa; Patrícia F Schuck; Vanessa Grando; Anna L Schmidt; Gustavo C Ferreira; Marcos L S Perry; Carlos S Dutra-Filho; Moacir Wajner
Journal:  Neurochem Res       Date:  2007-08-08       Impact factor: 3.996
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