Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models—a cohort study in 180 patients

[1]  S. Listl,et al.  Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis , 2013, Orphanet Journal of Rare Diseases.

[2]  A. Ribes,et al.  Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis. , 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[3]  R. Steiner,et al.  Processing speed and executive abilities in children with phenylketonuria. , 2012, Neuropsychology.

[4]  N. Longo,et al.  Glutaric acidemia type 1: outcomes before and after expanded newborn screening. , 2012, Molecular genetics and metabolism.

[5]  B. Keyser,et al.  Glutaric Aciduria Type 1 Metabolites Impair the Succinate Transport from Astrocytic to Neuronal Cells* , 2011, The Journal of Biological Chemistry.

[6]  M. Durán,et al.  Diagnosis and management of glutaric aciduria type I – revised recommendations , 2011, Journal of Inherited Metabolic Disease.

[7]  William N. Venables,et al.  Modern Applied Statistics with S , 2010 .

[8]  I. Harting,et al.  Use of guidelines improves the neurological outcome in glutaric aciduria type I , 2010, Annals of neurology.

[9]  M. Kamiński,et al.  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, Biochimica et biophysica acta.

[10]  I. Harting,et al.  Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. , 2009, Brain : a journal of neurology.

[11]  M. Vidailhet,et al.  Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients , 2008, Movement disorders : official journal of the Movement Disorder Society.

[12]  J. Christodoulou,et al.  Glutaric aciduria type I: outcome following detection by newborn screening , 2008, Journal of Inherited Metabolic Disease.

[13]  A. Boneh,et al.  Newborn screening for glutaric aciduria type I in Victoria: treatment and outcome. , 2008, Molecular genetics and metabolism.

[14]  R. Jacobs,et al.  Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I. , 2007, The Journal of clinical investigation.

[15]  J. Zschocke,et al.  Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany , 2007, Pediatric Research.

[16]  M. Wintermark,et al.  Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency. , 2007, Brain : a journal of neurology.

[17]  A. Morris,et al.  Commentary on: The aetiology of neurological complications of organic acidaemias—a role for the blood–brain barrier. Kölker S, Sauer SW, Surtees RAH, Leonard JV , 2006, Journal of Inherited Metabolic Disease.

[18]  R. Surtees,et al.  The aetiology of neurological complications of organic acidaemias—A role for the blood–brain barrier , 2006, Journal of Inherited Metabolic Disease.

[19]  K. Hornik,et al.  Unbiased Recursive Partitioning: A Conditional Inference Framework , 2006 .

[20]  S. Renowden,et al.  Magnetic Resonance of Myelination and Myelin Disorders , 2006, Journal of Neurology.

[21]  C. Harding,et al.  Intracerebral accumulation of glutaric and 3‐hydroxyglutaric acids secondary to limited flux across the blood–brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl‐CoA dehydrogenase deficiency , 2006, Journal of neurochemistry.

[22]  A. Ribes,et al.  Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency , 2006, Pediatric Research.

[23]  I. Harting,et al.  Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency , 2005, Neurology.

[24]  S. Kölker,et al.  Bioenergetics in Glutaryl-Coenzyme A Dehydrogenase Deficiency , 2005, Journal of Biological Chemistry.

[25]  C. Bührer,et al.  Glutaric Acid and Its Metabolites Cause Apoptosis in Immature Oligodendrocytes: A Novel Mechanism of White Matter Degeneration in Glutaryl-CoA Dehydrogenase Deficiency , 2005, Pediatric Research.

[26]  M. D. Del Bigio,et al.  Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort. , 2005, Brain : a journal of neurology.

[27]  J. Millichap.  Neuropathology of Glutaric Acidemia Type 1 , 2005 .

[28]  I. Harting,et al.  Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency) , 2004, Journal of Inherited Metabolic Disease.

[29]  K. Strimmer,et al.  APE: Analyses of Phylogenetics and Evolution in R language , 2004, Bioinform..

[30]  V. Donoghue,et al.  Neuroimaging findings in glutaric aciduria type 1 , 2003, Pediatric Radiology.

[31]  Walter Krämer,et al.  Review of Modern applied statistics with S, 4th ed. by W.N. Venables and B.D. Ripley. Springer-Verlag 2002 , 2003 .

[32]  E. Ho,et al.  Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families , 2002, Prenatal diagnosis.

[33]  M. Orozco,et al.  Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct , 2000, Pediatric Research.

[34]  P. Guldberg,et al.  Mutation analysis in glutaric aciduria type I , 2000, Journal of medical genetics.

[35]  J. Gomori,et al.  Striatal degeneration and spongy myelinopathy in glutaric acidemia , 1992, Journal of the Neurological Sciences.

[36]  H. Rösner,et al.  Topographical Atlas of the Gangliosides of the Adult Human Brain , 1984, Journal of neurochemistry.

[37]  R Core Team,et al.  R: A language and environment for statistical computing. , 2014 .

[38]  S. Kölker,et al.  Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I. , 2011, Brain : a journal of neurology.

[39]  M. Wintermark,et al.  Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency. , 2010, Brain : a journal of neurology.

[40]  D. Danks,et al.  Neuropathology in glutaric acidaemia type 1 , 2004, Acta Neuropathologica.

[41]  Y. Benjamini,et al.  Controlling the false discovery rate: a practical and powerful approach to multiple testing , 1995 .

[42]  J. Valk,et al.  Myelination and Retarded Myelination , 1989 .

[43]  S. Markey,et al.  Glutaric aciduria; a "new" disorder of amino acid metabolism. , 1975, Biochemical medicine.