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Condensation of delta-1-piperideine-6-carboxylate with ortho-aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiency.
Boehm, Thomas; Hubmann, Holger; Petroczi, Karin; Mathis, Déborah; Klavins, Kristaps; Fauler, Guenter; Plecko, Barbara; Struys, Eduard; Jilma, Bernd.
Afiliação
  • Boehm T; Department of Clinical Pharmacology, Medical University of Vienna, Vienna, Austria.
  • Hubmann H; Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria.
  • Petroczi K; Department of Clinical Pharmacology, Medical University of Vienna, Vienna, Austria.
  • Mathis D; Department of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, Zurich, Switzerland.
  • Klavins K; CeMM Research Centre for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Fauler G; Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Graz, Austria.
  • Plecko B; Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria.
  • Struys E; Department of Clinical Chemistry, Amsterdam University Medical Centers, location VUmc, Amsterdam, The Netherlands.
  • Jilma B; Department of Clinical Pharmacology, Medical University of Vienna, Vienna, Austria.
J Inherit Metab Dis ; 43(4): 891-900, 2020 07.
Article em En | MEDLINE | ID: mdl-31930735

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ácidos Picolínicos / Benzaldeídos / Aldeído Desidrogenase / Epilepsia Tipo de estudo: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Áustria

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ácidos Picolínicos / Benzaldeídos / Aldeído Desidrogenase / Epilepsia Tipo de estudo: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Áustria