Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study

Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise

(2020) Bianca Dimitrov et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis

(2020) Nikolas Boy et al.   GENETICS IN MEDICINE

Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades

(2020) Kevin A. Strauss et al.   MOLECULAR GENETICS AND METABOLISM

Neurological manifestations of organic acidurias

(2019) Moacir Wajner   Nature Reviews Neurology

Newborn screening: A disease-changing intervention for glutaric aciduria type 1

(2018) Nikolas Boy et al.   ANNALS OF NEUROLOGY

Malignant brain tumors in patients with glutaric aciduria type I

(2018) A. Serrano Russi et al.   MOLECULAR GENETICS AND METABOLISM

Disease-Linked Glutarylation Impairs Function and Interactions of Mitochondrial Proteins and Contributes to Mitochondrial Heterogeneity

(2018) Jessica Schmiesing et al.   Cell Reports

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

(2017) Nikolas Boy et al.   Orphanet Journal of Rare Diseases

The association between weight, height, and head circumference reconsidered

(2017) Christiane Scheffler et al.   PEDIATRIC RESEARCH

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

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

Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I

(2015) Sven W. Sauer et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review

(2015) Marloes E. M. Vester et al.   Forensic Science Medicine and Pathology

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

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

(2015) Stefan Kölker et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

(2015) Stefan Kölker et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Severe Acute Subdural Hemorrhage in a Patient With Glutaric Aciduria Type I After Minor Head Trauma

(2014) Matthias Zielonka et al.   JOURNAL OF CHILD NEUROLOGY

Glutaric aciduria type I: Outcome of patients with early- versus late-diagnosis

(2013) Ma Luz Couce et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Low lysine diet in glutaric aciduria type I – effect on anthropometric and biochemical follow-up parameters

(2012) Nikolas Boy et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Glutaric acidemia Type 1: Outcomes before and after expanded newborn screening

(2012) Krista Viau et al.   MOLECULAR GENETICS AND METABOLISM

Glutaric Aciduria Type 1 Metabolites Impair the Succinate Transport from Astrocytic to Neuronal Cells

(2011) Jessica Lamp et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency

(2009) Kevin A. Strauss et al.   BRAIN

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

(2009) Inga Harting et al.   BRAIN

Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1

(2008) Britta Keyser et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE