886 papers found
Refreshing results…
Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis
Vitamin-B12-Mangel im Neugeborenen- und Säuglingsalter – Ursachen, Früherkennung, Diagnostik und Vorstellung eines primär oralen Behandlungsschemas
Quantitative retrospective natural history modeling for orphan drug development
Optimized Trientine-Dihydrochloride Therapy in Pediatric Patients with Wilson Disease
An updated systematic review and meta-analysis on adherence to mediterranean diet and risk of cancer
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1
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
Missing publications? Read more about our data sources.