Literature DB >> 8739960

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

M Brivet1, A Slama, D S Millington, C R Roe, F Demaugre, A Legrand, A Boutron, F Poggi, J M Saudubray.   

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Year:  1996        PMID： 8739960     DOI： 10.1007/bf01799424

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


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  7 in total

1.  Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism.

Authors:  D S Millington; N Kodo; D L Norwood; C R Roe
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.

Authors:  C A Stanley; D E Hale; G T Berry; S Deleeuw; J Boxer; J P Bonnefont
Journal:  N Engl J Med       Date:  1992-07-02       Impact factor: 91.245

3.  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

4.  Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation.

Authors:  P B Corr; M H Creer; K A Yamada; J E Saffitz; B E Sobel
Journal:  J Clin Invest       Date:  1989-03       Impact factor: 14.808

5.  Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency.

Authors:  O N Elpeleg; A Joseph; D Branski; E Christensen; E Holme; F Demaugre; J M Saudubray; A Gutman
Journal:  J Pediatr       Date:  1993-06       Impact factor: 4.406

Review 6.  Disorders of mitochondrial long-chain fatty acid oxidation.

Authors:  R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

7.  Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.

Authors:  F Demaugre; J P Bonnefont; M Colonna; C Cepanec; J P Leroux; J M Saudubray
Journal:  J Clin Invest       Date:  1991-03       Impact factor: 14.808
  7 in total
  6 in total

1.  Carnitine-acylcarnitine translocase deficiency is a treatable disease.

Authors:  A I al Aqeel; M S Rashed; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1999-05       Impact factor: 4.982

Review 2.  Defects in activation and transport of fatty acids.

Authors:  M Brivet; A Boutron; A Slama; C Costa; L Thuillier; F Demaugre; D Rabier; J M Saudubray; J P Bonnefont
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

3.  Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment.

Authors:  R Parini; F Invernizzi; F Menni; B Garavaglia; D Melotti; M Rimoldi; S Salera; C Tosetto; F Taroni
Journal:  J Inherit Metab Dis       Date:  1999-08       Impact factor: 4.982

4.  Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature.

Authors:  Isidro Vitoria; Elena Martín-Hernández; Luis Peña-Quintana; María Bueno; Pilar Quijada-Fraile; Jaime Dalmau; Sofia Molina-Marrero; Belén Pérez; Begoña Merinero
Journal:  JIMD Rep       Date:  2015-01-23

5.  Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.

Authors:  M Huizing; V Iacobazzi; L Ijlst; P Savelkoul; W Ruitenbeek; L van den Heuvel; C Indiveri; J Smeitink; F Trijbels; R Wanders; F Palmieri
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

Review 6.  Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review.

Authors:  Hui-Ming Yan; Hao Hu; Aisha Ahmed; Bing-Bing Feng; Jing Liu; Zheng-Jun Jia; Hua Wang
Journal:  Medicine (Baltimore)       Date:  2017-11       Impact factor: 1.817
  6 in total

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