904 papers found
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Glycogen accumulation, central carbon metabolism, and aging of hematopoietic stem and progenitor cells
In vivo High-Content Screening in Zebrafish for Developmental Nephrotoxicity of Approved Drugs
A Global Cndp1-Knock-Out Selectively Increases Renal Carnosine and Anserine Concentrations in an Age- and Gender-Specific Manner in Mice
Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency
The Genetic Landscape and Epidemiology of Phenylketonuria
Introduction to disorders of fatty acid oxidation
D-2-hydroxyglutaric (DL-2-hydroxyglutaric) aciduria
Glutamine synthetase deficiency
Citrullinemia type I
Propionic acidemia
Galactosemia
Multiple carboxylase deficiency/holocarboxylase synthetase deficiency
Introduction to the organic acidemias
Ornithine transcarbamylase deficiency
Cobalamin C, D, F, G diseases; methylmalonic aciduria and variable homocystinuria
Carnitine-acylcarnitine translocase deficiency
Glycogen storage diseases: introduction
Phenylketonuria
Glycogenosis type I – von Gierke disease
The methylmalonic malonic aciduria of deficiency of AcylCoA synthetase (ACSF3)
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