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Amino Acids|December 13, 2024
Dipeptides in CSF and plasma: diagnostic and therapeutic potential in neurological diseasesKatharina Küper, Gernot Poschet, Julia Rossmann, et al.Cardiology in the Young|December 1, 2023
Intraoperative transit-time flow measurement of caval veins before and after bidirectional cavopulmonary anastomosisSara C Arrigoni, Joost M A A van der Maaten, Marc T R Roofthooft, et al.Human Genetics|June 21, 2001
Molecular and functional characterisation of mild MCAD deficiencyJ Zschocke, A Schulze, M Lindner, et al.Pediatrics|February 4, 2003
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrumViola Prietsch, Ertan Mayatepek, Hermann Krastel, et al.Journal of Inherited Metabolic Disease|July 18, 2002
A new case of CDG-x with stereotyped dystonic hand movements and optic atrophyV Prietsch, V Peters, R Hackler, et al.The Journal of Biological Chemistry|February 16, 2002
Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicityJürgen G Okun, Friederike Hörster, Lilla M Farkas, et al.The Journal of Biological Chemistry|April 21, 2005
Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme ASven W Sauer, Jürgen G Okun, Marina A Schwab, et al.Plos One|September 16, 2017
Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disordersPéter Monostori, Glynis Klinke, Sylvia Richter, et al.Frontiers in Cell and Developmental Biology|August 6, 2020
In vivo High-Content Screening in Zebrafish for Developmental Nephrotoxicity of Approved DrugsJens H Westhoff, Petrus J Steenbergen, Laurent S V Thomas, et al.Clinical Chemistry|December 10, 1999
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiencyC Bräutigam, G C Steenbergen-Spanjers, G F Hoffmann, et al.Pageof 108