Glutaric aciduria; A “new” disorder of amino acid metabolism

Stephen I. Goodman, Sanford P. Markey, Paul G. Moe, +2

Biochemical Medicine

Renal FunctionBiochemistryInherited Metabolic DiseaseMetabolismRenal Pathophysiology +3

Antiepileptic drug use of women with epilepsy and congenital malformations in offspring

Miia Artama, Anssi Auvinen, Tytti Raudaskoski, +2

Neurology

Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

Stefan Kölker, Sven F. Garbade, Cheryl R. Greenberg, +26

Pediatric Research

NutritionMetabolic DisorderPediatric HematologyTreatment EfficacyHematology +6

Glutaric aciduria Type II

Lawrence Sweetman, William L. Nyhan, Doris A. Trauner, +2

The Journal of Pediatrics

Glomerular DiseaseUrologyMedicineKidney FailurePathology +4

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

Sven W. Sauer, Jürgen G. Okun, Gert Fricker, +10

Journal of Neurochemistry

Long-Chain Fatty Acid Oxidation during Early Human Development

Nadia A. Oey, M. E. J. den Boer, Frits A. Wijburg, +7

Pediatric Research

Metabolic SyndromeDevelopmental BiologyOmega-3 Fatty AcidEarly Human DevelopmentPhysiology +5

3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children

K. Michael Gibson, Mark J. Bennett, Erik Naylor, +1

The Journal of Pediatrics

BiochemistryIncreased AcylcarnitinesBlood SpotsPharmacologyAmish/mennonite Adults

Glutaric aciduria type I: Enzymatic and neuroradiologic investigations of two kindreds

Naomi Amir, Orly N. Elpeleg, Ruth S. Shalev, +1

The Journal of Pediatrics

Glutaric Aciduria TypeBiochemistryMedicineInherited Metabolic DiseaseGlycobiology +3

Carnitine transporter defect: Diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants

S. Vijay, Amanda Patterson, S. E. Olpin, +5

Journal of Inherited Metabolic Disease

l-Carnitine is Synthesized in the Human Fetal–Placental Unit: Potential Roles in Placental and Fetal Metabolism

Nadia A. Oey, N VANVLIES, Frits A. Wijburg, +3

Placenta

Human Fetal–placental UnitBiochemistryPlacental DevelopmentPhysiologyFetal Metabolism +9