Literature DB >> 7564262

Do criteria exist from urinary organic acids to distinguish beta-oxidation defects?

D Rabier1, J Bardet, P Parvy, F Poggi, M Brivet, J M Saudubray, P Kamoun.   

Abstract

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Year:  1995        PMID： 7564262     DOI： 10.1007/BF00711782

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


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  7 in total

1.  Ethylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiency.

Authors:  W Lehnert; W Ruitenbeek
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

2.  Muscle cytochrome c oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency.

Authors:  E Christensen; N J Brandt; H Schmalbruch; Z Kamieniecka; B Hertz; W Ruitenbeek
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

Review 3.  Regulation of fatty acid oxidation in cells.

Authors:  H S Sherratt; T D Spurway
Journal:  Biochem Soc Trans       Date:  1994-05       Impact factor: 5.407

4.  Urinary 3-hydroxydicarboxylic acids in pathophysiology of metabolic disorders with dicarboxylic aciduria.

Authors:  K Y Tserng; S J Jin; D S Kerr; C L Hoppel
Journal:  Metabolism       Date:  1991-07       Impact factor: 8.694

5.  Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: another possible case of glutaric aciduria type II.

Authors:  N Gregersen; S Kølvraa; K Rasmussen; E Christensen; N J Brandt; F Ebbesen; F H Hansen
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

6.  Influence of valproic acid on hepatic carbohydrate and lipid metabolism.

Authors:  C M Becker; R A Harris
Journal:  Arch Biochem Biophys       Date:  1983-06       Impact factor: 4.013

7.  Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors:  M J Bennett; M J Weinberger; W G Sherwood; A B Burlina
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982
  7 in total
  3 in total

1.  Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.

Authors:  A Maguolo; G Rodella; A Dianin; R Nurti; I Monge; E Rigotti; G Cantalupo; L Salviati; S Tucci; F Pellegrini; G Molinaro; F Lupi; P Tonin; A Pasini; N Campostrini; F Ion Popa; F Teofoli; M Vincenzi; M Camilot; G Piacentini; A Bordugo
Journal:  Mol Genet Metab Rep       Date:  2020-08-05

Review 2.  Disorders of mitochondrial long-chain fatty acid oxidation.

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

3.  A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.

Authors:  Robin Chautard; Cécile Laroche-Raynaud; Anne-Sophie Lia; Pauline Chazelas; Paco Derouault; Franck Sturtz; Yasser Baaj; Alice Veauville-Merllié; Cécile Acquaviva; Frédéric Favreau; Pierre-Antoine Faye
Journal:  BMC Med Genomics       Date:  2020-01-29       Impact factor: 3.063
  3 in total

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