Literature DB >> 10384385

Carnitine-acylcarnitine translocase deficiency is a treatable disease.

A I al Aqeel1, M S Rashed, R J Wanders.   

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Year:  1999        PMID： 10384385     DOI： 10.1023/a:1005546408659

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


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  6 in total

1.  Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.

Authors:  M Brivet; A Slama; D S Millington; C R Roe; F Demaugre; A Legrand; A Boutron; F Poggi; J M Saudubray
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

2.  Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles.

Authors:  M S Rashed; M P Bucknall; D Little; A Awad; M Jacob; M Alamoudi; M Alwattar; P T Ozand
Journal:  Clin Chem       Date:  1997-07       Impact factor: 8.327

3.  Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death.

Authors:  R A Chalmers; C A Stanley; N English; J S Wigglesworth
Journal:  J Pediatr       Date:  1997-08       Impact factor: 4.406

4.  Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase.

Authors:  H Ogier de Baulny; A Slama; G Touati; D M Turnbull; M Pourfarzam; M Brivet
Journal:  J Pediatr       Date:  1995-11       Impact factor: 4.406

5.  Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.

Authors:  S V Pande; M Brivet; A Slama; F Demaugre; C Aufrant; J M Saudubray
Journal:  J Clin Invest       Date:  1993-03       Impact factor: 14.808

6.  Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry.

Authors:  M S Rashed; P T Ozand; M P Bucknall; D Little
Journal:  Pediatr Res       Date:  1995-09       Impact factor: 3.756
  6 in total
  1 in total

1.  Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry.

Authors:  K Gempel; S Kiechl; S Hofmann; H Lochmüller; U Kiechl-Kohlendorfer; J Willeit; W Sperl; A Rettinger; I Bieger; D Pongratz; K D Gerbitz; M F Bauer
Journal:  J Inherit Metab Dis       Date:  2002-02       Impact factor: 4.982
  1 in total

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