[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)].
Tojo M, Gunji T, Yamaguchi S, Shimizu N, Koga Y, Nonaka I.
No To Hattatsu · journal article; english abstract; case reports PUBLIKATIONSREGISTRET
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8 träffarMolecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele.
Gregersen N, Winter V, Lyonnet S, Saudubray JM, Wendel U, Jensen TG, Andresen BS, Kølvraa S, Lehnert W, Bolund L.
J Inherit Metab Dis · research support, non-u.s. gov't; journal article · DOI 10.1007/bf00711614[Generalized epilepsy disclosing medium-chain-acyl-CoA dehydrogenase deficiency].
Chabrol B, Mancini J, Bertrand C, Vianey-Saban C, Divry P, Livet MO, Pinsard N.
Arch Fr Pediatr · journal article; english abstract; case reportsThe measurement of carnitine and acyl-carnitines: application to the investigation of patients with suspected inherited disorders of mitochondrial fatty acid oxidation.
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Clin Chim Acta · research support, non-u.s. gov't; journal article · DOI 10.1016/0009-8981(92)90118-aAutomated screening of urine samples for carbohydrates, organic and amino acids after treatment with urease.
Shoemaker JD, Elliott WH.
J Chromatogr · research support, u.s. gov't, p.h.s.; journal article · DOI 10.1016/0378-4347(91)80571-sAbnormal urinary excretion of unsaturated dicarboxylic acids in patients with medium-chain acyl-CoA dehydrogenase deficiency.
Tserng KY, Jin SJ, Kerr DS, Hoppel CL.
J Lipid Res · research support, u.s. gov't, p.h.s.; research support, non-u.s. gov't; journal article · DOI 10.1016/s0022-2275(20)42775-0Stable isotope dilution analysis of n-hexanoylglycine, 3-phenylpropionylglycine and suberylglycine in human urine using chemical ionization gas chromatography/mass spectrometry selected ion monitoring.
Rinaldo P, O'Shea JJ, Welch RD, Tanaka K.
Biomed Environ Mass Spectrom · research support, u.s. gov't, p.h.s.; research support, non-u.s. gov't; journal article · DOI 10.1002/bms.1200180705Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria.
Gregersen N, Lauritzen R, Rasmussen K.
Clin Chim Acta · journal article; case reports · DOI 10.1016/0009-8981(76)90355-7