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Clinica Chimica Acta, ISSN 0009-8981, 12/2019, Volume 499, pp. 13 - 15
The product of thiamine phosphokinase is the cofactor for many enzymes, including the dehydrogenases of pyruvate, 2-ketoglutarate and branched chain ketoacids.... 
TPK1 | Thiamine phosphokinase | Basal Ganglia
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2016, Volume 117, Issue 2, pp. S25 - S25
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2017, Volume 120, Issue 1-2, pp. S140 - S140
Journal Article
Journal Article
Mitochondrion, ISSN 1567-7249, 2004, Volume 4, Issue 5, pp. 521 - 527
In order to examine correlations which might be useful in ascertaining or confirming the diagnosis of mitochondrial disease, a retrospective analysis of urine... 
Fumarate | Malate | Diagnostic criteria | Organic acidemia | Lactic acidemia | Mitochondrial disease | Organic acids | BETA-OXIDATION | RESPIRATORY-CHAIN | lactic acidemia | diagnostic criteria | DEFECTS | DISORDERS | organic acids | mitochondrial disease | FIBROBLASTS | CHILDREN | CELL BIOLOGY | DEHYDROGENASE-DEFICIENCY | malate | organic acidemia | GENETICS & HEREDITY | DIAGNOSTIC-CRITERIA | fumarate
Journal Article
Clinical Chemistry, ISSN 0009-9147, 05/2016, Volume 62, Issue 5, pp. 766 - 772
Cystine determination is a critical biochemical test for the diagnosis and therapeutic monitoring of the lysosomal storage disease cystinosis. The classical... 
Humans | Middle Aged | Child, Preschool | Male | Young Adult | Cystinosis - blood | Cystinosis - diagnosis | Tandem Mass Spectrometry | Immunomagnetic Separation | Adolescent | Chromatography, Liquid | Cystine - blood | Adult | Female | Granulocytes - pathology | Child | Cystinosis | Care and treatment | Diagnosis | Proteins | Studies | Nanoparticles | Granulocytes | Laboratories | Lymphocytes | Funding | Patients | Methods | Shipments
Journal Article
Kidney International. Supplement, ISSN 0085-2538, 2016, Volume 89, Issue 6, pp. 1192 - 1203
Journal Article
Journal Article