Literature DB >> 1777996

Prenatal diagnosis of isovaleric acidemia by fast atom bombardment and tandem mass spectrometry.

Y Shigematsu1, Y Kikawa, M Sudo, H Kanaoka, M Fujioka, M Dan.   

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Year:  1991        PMID： 1777996     DOI： 10.1016/0009-8981(91)90310-9

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  4 in total

1.  Uncooked cornstarch treatment for hepatic phosphorylase kinase deficiency.

Authors:  A Nakai; Y Shigematsu; T Takano; Y Kikawa; M Sudo
Journal:  Eur J Pediatr       Date:  1994-08       Impact factor: 3.183

Review 2.  Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.

Authors:  Jerry Vockley; Regina Ensenauer
Journal:  Am J Med Genet C Semin Med Genet       Date:  2006-05-15       Impact factor: 3.908

3.  Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches.

Authors:  Si Ding; Lili Liang; Wenjuan Qiu; Huiwen Zhang; Bing Xiao; Liping Dong; Wenjun Ji; Feng Xu; Zhuwen Gong; Xuefan Gu; Lei Wang; Lianshu Han
Journal:  Front Genet       Date:  2022-06-30       Impact factor: 4.772

4.  Acylcarnitine profile in tissues and body fluids of biotin-deficient rats with and without L-carnitine supplementation.

Authors:  Y Shigematsu; I L Bykov; Y Y Liu; A Nakai; Y Kikawa; M Sudo; M Fujioka
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982
  4 in total

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