Literature DB >> 9266369

Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry.

C Vianey-Saban1, N Guffon, F Delolne, P Guibaud, M Mathieu, P Divry.   

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Year:  1997        PMID： 9266369     DOI： 10.1023/a:1005306818025

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  1 in total

1.  The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders.

Authors:  D S Millington; N Terada; D H Chace; Y T Chen; J H Ding; N Kodo; C R Roe
Journal:  Prog Clin Biol Res       Date:  1992
  1 in total
  6 in total

1.  Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis.

Authors:  K E Baerlocher; B Steinmann; A Aguzzi; S Krähenbühl; C R Roe; C Vianey-Saban
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

2.  Evaluation of brain long-chain acylcarnitines during cerebral ischemia.

Authors:  J Deutsch; B Kalderon; A D Purdon; S I Rapoport
Journal:  Lipids       Date:  2000-06       Impact factor: 1.880

3.  Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis.

Authors:  Khalid Al-Thihli; Graham Sinclair; Sandra Sirrs; Michelle Mezei; Judie Nelson; Hilary Vallance
Journal:  J Inherit Metab Dis       Date:  2013-01-08       Impact factor: 4.982

4.  Direct and quantitative analysis of underivatized acylcarnitines in serum and whole blood using paper spray mass spectrometry.

Authors:  Qian Yang; Nicholas E Manicke; He Wang; Christopher Petucci; R Graham Cooks; Zheng Ouyang
Journal:  Anal Bioanal Chem       Date:  2012-07-04       Impact factor: 4.142

5.  Homozygous carnitine palmitoyltransferase 1b (muscle isoform) deficiency is lethal in the mouse.

Authors:  Shaonin Ji; Yun You; Janos Kerner; Charles L Hoppel; Trenton R Schoeb; Wallace S H Chick; Doug A Hamm; J Daniel Sharer; Philip A Wood
Journal:  Mol Genet Metab       Date:  2007-11-19       Impact factor: 4.797

6.  Importance of acylcarnitine profile analysis for disorders of lipid metabolism in adolescent patients with recurrent rhabdomyolysis: Report of two cases.

Authors:  Yasemin Topçu; Erhan Bayram; Pakize Karaoğlu; Uluç Yiş; Semra Hız Kurul
Journal:  Ann Indian Acad Neurol       Date:  2014-10       Impact factor: 1.383
  6 in total

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