Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

(2016) Nikolas Boy et al.   JOURNAL OF INHERITED METABOLIC DISEASE

1H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites

(2015) Inga Harting et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules

(2015) T. M. Pierson et al.   NEUROGENETICS

A case of choreoathetosis due to glutaric aciduria type 1

(2013) Jianfang Ma et al.   MOVEMENT DISORDERS

Subependymal mass lesions and peripheral polyneuropathy in adult-onset glutaric aciduria type I

(2013) M. Herskovitz et al.   NEUROLOGY

Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia

(2011) Jose Felix Marti-Masso et al.   HUMAN GENETICS

Diagnosis and management of glutaric aciduria type I – revised recommendations

(2011) Stefan Kölker et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: Focus on cerebral amino acid influx

(2011) Kevin A. Strauss et al.   MOLECULAR GENETICS AND METABOLISM

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

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

(2010) Sven W. Sauer et al.   BRAIN

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

(2009) Inga Harting et al.   BRAIN

Maternal glutaric acidemia, type I identified by newborn screening

(2008) Eric A. Crombez et al.   MOLECULAR GENETICS AND METABOLISM

Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: ade novo case

(2008) C. Mellerio et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY