Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I

Use of guidelines improves the neurological outcome in glutaric aciduria type I

(2010) Jana Heringer et al.   ANNALS OF NEUROLOGY

Glutaric aciduria type I and methylmalonic aciduria: Simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood–brain barrier and the choroid plexus

(2010) Sven W. Sauer et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I

(2009) Inga Harting et al.   BRAIN

Metabolism of lysine in α-aminoadipic semialdehyde dehydrogenase-deficient fibroblasts: Evidence for an alternative pathway of pipecolic acid formation

(2009) Eduard A. Struys et al.   FEBS LETTERS

Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC–MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures

(2009) Katerina Sadilkova et al.   JOURNAL OF NEUROSCIENCE METHODS

Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10

(2008) Eric A. Sherman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

New indications and controversies in arginine therapy

(2008) David Coman et al.   CLINICAL NUTRITION

Glutaric aciduria type I: outcome following detection by newborn screening

(2008) S. Bijarnia et al.   JOURNAL OF INHERITED METABOLIC DISEASE

PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders

(2008) F. Djouadi et al.   JOURNAL OF INHERITED METABOLIC DISEASE