Literature DB >> 9700600

Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidation.

N L Tang1, J Hui, L K Law, K F To, J P Ruiter, L IJlst, R J Wanders, C S Ho, T F Fok, P M Yuen, N M Hjelm.   

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Year:  1998        PMID： 9700600     DOI： 10.1023/a:1005314910623

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


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  2 in total

Review 1.  Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.

Authors:  Loek L Crefcoeur; Gepke Visser; Sacha Ferdinandusse; Frits A Wijburg; Mirjam Langeveld; Barbara Sjouke
Journal:  J Inherit Metab Dis       Date:  2022-02-03       Impact factor: 4.750

2.  Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests.

Authors:  Li-Yun Wang; Nien-I Chen; Pin-Wen Chen; Shu-Chuan Chiang; Wuh-Liang Hwu; Ni-Chung Lee; Yin-Hsiu Chien
Journal:  BMC Med Genet       Date:  2013-02-10       Impact factor: 2.103
  2 in total

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