Literature DB >> 7004178

An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias.

S I Goodman.   

Abstract

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Year:  1980        PMID： 7004178      PMCID： PMC1686166     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  69 in total

1.  Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I.

Authors:  B CHILDS; W L NYHAN; M BORDEN; L BARD; R E COOKE
Journal:  Pediatrics       Date:  1961-04       Impact factor: 7.124

2.  Isovaleric acidemia: results of family study and dietary treatment.

Authors:  H L Levy; A M Erickson; I T Lott; D J Kurtz
Journal:  Pediatrics       Date:  1973-07       Impact factor: 7.124

3.  Isolation and identification of methylcitrate, a major metabolic product of propionate in patients with propionic acidemia.

Authors:  T Ando; K Rasmussen; J M Wright; W L Nyhan
Journal:  J Biol Chem       Date:  1972-04-10       Impact factor: 5.157

4.  Beta-methylcrotonyl-CoA carboxylase deficiency: a new metabolic error in leucine degradation.

Authors:  O Stokke; L Eldjarn; E Jellum; H Pande; P E Waaler
Journal:  Pediatrics       Date:  1972-05       Impact factor: 7.124

5.  Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia.

Authors:  L E Rosenberg; A C Lilljeqvist; Y E Hsia
Journal:  N Engl J Med       Date:  1968-06-13       Impact factor: 91.245

6.  The isolation and identification of N-isovalerylglycine from urine of patients with isovaleric acidemia.

Authors:  K Tanaka; K J Isselbacher
Journal:  J Biol Chem       Date:  1967-06-25       Impact factor: 5.157

7.  Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis.

Authors:  V G Oberholzer; B Levin; E A Burgess; W F Young
Journal:  Arch Dis Child       Date:  1967-10       Impact factor: 3.791

8.  The inhibition by methylmalonic acid of malate transport by the dicarboxylate carrier in rat liver mitochondria. A possible explantation for hypoglycemia in methylmalonic aciduria.

Authors:  M L Halperin; C M Schiller; I B Fritz
Journal:  J Clin Invest       Date:  1971-11       Impact factor: 14.808

9.  Organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: facts and artefacts.

Authors:  M Duran; D Ketting; S K Wadman; C Jakobs; R B Schutgens; H A Veder
Journal:  Clin Chim Acta       Date:  1978-12-01       Impact factor: 3.786

10.  Recurrent hypoglycemia associated with glutaric aciduria type II in an adult.

Authors:  G Dusheiko; M C Kew; B I Joffe; J R Lewin; S Mantagos; K Tanaka
Journal:  N Engl J Med       Date:  1979-12-27       Impact factor: 91.245
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  2 in total

1.  Mitochondrial Factors and VACTERL Association-Related Congenital Malformations.

Authors:  S Siebel; B D Solomon
Journal:  Mol Syndromol       Date:  2013-02

Review 2.  Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies.

Authors:  Moacir Wajner; Stephen I Goodman
Journal:  J Bioenerg Biomembr       Date:  2011-02       Impact factor: 2.945
  2 in total

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