Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia-Reference-Cited by-同舟云学术

Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia

Published:2017-03 Issue: Volume:1046 Page:195-199
ISSN:1570-0232
Container-title:Journal of Chromatography B
language:en
Short-container-title:Journal of Chromatography B

Author:

Gotoh Kana,Nakajima Yoko,Tajima Go,Watanabe Yoriko,Hotta Yuji,Kataoka Tomoya,Kawade Yoshihiro,Sugiyama Naruji,Ito Tetsuya,Kimura Kazunori,Maeda Yasuhiro

Funder

Japan Agency for Medical Research and Development

Publisher

Elsevier BV

Subject

Cell Biology,Clinical Biochemistry,Biochemistry,General Medicine,Analytical Chemistry

Reference18 articles.

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3. Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy;Laemmle;Eur. J. Pediatr.,2014

4. Proposed guidelines for the diagnosis and management of methylmalonic and propionic academia;Baumgartner;Orphanet J. Rare Dis.,2014

5. Continuous venovenous haemodialysis (CVVHD) and continuous peritoneal dialysis (CPD) in the acute management of 21 children with inborn errors of metabolism;Arbeiter;Nephrol. Dial. Transplant.,2010

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1. Successful heart transplantation in a patient with adolescent-onset dilated cardiomyopathy secondary to propionic acidaemia: a case report;European Heart Journal - Case Reports;2022-05-13

2. Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant;International Journal of Neonatal Screening;2021-06-28

3. Hallazgos clínicos, bioquímicos y moleculares de la acidemia propiónica. Reporte de un caso;Archivos Argentinos de Pediatria;2019-06-01