Literature DB >> 12651823

Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency.

René Santer1, Ralph Fingerhut, Uta Lässker, Patrick J Wightman, David R Fitzpatrick, Bernhard Olgemöller, Adelbert A Roscher.   

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Year:  2003        PMID： 12651823     DOI： 10.1373/49.4.660

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  11 in total

Review 1.  Advances in analytical mass spectrometry to improve screening for inherited metabolic diseases.

Authors:  Wulf Röschinger; Bernhard Olgemöller; Ralph Fingerhut; Bernhard Liebl; Adelbert A Roscher
Journal:  Eur J Pediatr       Date:  2003-11-14       Impact factor: 3.183

2.  Profile of inborn errors of metabolism in a tertiary care centre PICU.

Authors:  Mahesh Kamate; Vivek Chetal; Vijaylaxmi Kulgod; Vishwanath Patil; Rita Christopher
Journal:  Indian J Pediatr       Date:  2010-02-05       Impact factor: 1.967

3.  Malonic aciduria: long-term follow-up of new patients detected by newborn screening.

Authors:  Fabian Baertling; Ertan Mayatepek; Eva Thimm; Andrea Schlune; Alexander Kovacevic; Felix Distelmaier; Gajja S Salomons; Thomas Meissner
Journal:  Eur J Pediatr       Date:  2014-09-20       Impact factor: 3.183

4.  Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency.

Authors:  G S Salomons; C Jakobs; L Landegge Pope; A Errami; M Potter; M Nowaczyk; S Olpin; N Manning; J A J Raiman; T Slade; M P Champion; D Peck; D Gavrilov; R Hillman; G E Hoganson; K Donaldson; J P H Shield; D Ketteridge; M Wasserstein; K M Gibson
Journal:  J Inherit Metab Dis       Date:  2006-12-20       Impact factor: 4.982

5.  Pharmacometabolomics Reveals Irinotecan Mechanism of Action in Cancer Patients.

Authors:  Xun Bao; Jianmei Wu; Seongho Kim; Patricia LoRusso; Jing Li
Journal:  J Clin Pharmacol       Date:  2018-07-27       Impact factor: 3.126

6.  [Effects of delivery and storage conditions on concentrations of amino acids and carnitines in neonatal dried blood spots].

Authors:  Lingwei Hu; Zhenzhen Hu; Jianbin Yang; Yu Zhang; Yezhen Shi; Shasha Zhu; Rulai Yang; Xinwen Huang
Journal:  Zhejiang Da Xue Xue Bao Yi Xue Ban       Date:  2020-10-25

7.  Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening.

Authors:  C Ficicioglu; M R K Chrisant; I Payan; D H Chace
Journal:  Pediatr Cardiol       Date:  2005 Nov-Dec       Impact factor: 1.655

8.  Highly sensitive quantification of serum malonate, a possible marker for de novo lipogenesis, by LC-ESI-MS/MS.

Authors:  Akira Honda; Kouwa Yamashita; Tadashi Ikegami; Takashi Hara; Teruo Miyazaki; Takeshi Hirayama; Mitsuteru Numazawa; Yasushi Matsuzaki
Journal:  J Lipid Res       Date:  2009-04-29       Impact factor: 5.922

9.  Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation.

Authors:  Gozde Colak; Olga Pougovkina; Lunzhi Dai; Minjia Tan; Heleen Te Brinke; He Huang; Zhongyi Cheng; Jeongsoon Park; Xuelian Wan; Xiaojing Liu; Wyatt W Yue; Ronald J A Wanders; Jason W Locasale; David B Lombard; Vincent C J de Boer; Yingming Zhao
Journal:  Mol Cell Proteomics       Date:  2015-08-28       Impact factor: 5.911

10.  Comparative metabolomics of aging in a long-lived bat: Insights into the physiology of extreme longevity.

Authors:  Hope C Ball; Shiva Levari-Shariati; Lisa Noelle Cooper; Michel Aliani
Journal:  PLoS One       Date:  2018-05-01       Impact factor: 3.240
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