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Canadian Journal of Speech-Language Pathology and Audiology, ISSN 1913-200X, 2014, Volume 38, Issue 3, pp. 280 - 303
Journal Article
Monatsschrift Kinderheilkunde, ISSN 0026-9298, 2/2015, Volume 163, Issue 2, pp. 142 - 149
Im Rahmen eines Pilotprojekts wurde der Umfang des deutschen Neugeborenenscreenings (NGS) um 14 Erkrankungen erweitert. Die bisher untersuchten Probenzahlen... 
Pediatrics | Tandem mass spectrometry | Tyrosinemia type I | General Practice / Family Medicine | Methylmalonacidurie | Blutprobenentnahme | Propionic acidemia | Blood specimen collection | Methylmalonic aciduria | Medicine & Public Health | Tandem-Massenspektrometrie | Propionacidämie | Hypertyrosinämie Typ I
Journal Article
Klinische Padiatrie, ISSN 0300-8630, 2010, Volume 222, Issue 1, pp. 35 - 37
Journal Article
MONATSSCHRIFT KINDERHEILKUNDE, ISSN 0026-9298, 12/2004, Volume 152, Issue 12, pp. 1338 - 1340
Journal Article
Anales de Pediatría, ISSN 1695-4033, 2008, Volume 69, Issue 3, pp. 239 - 243
Introducción La aciduria glutárica tipo I (AG-I) es un desorden metabólico de herencia autosómica recesiva y carácter progresivo debido al déficit de la enzima... 
Pediatrics | Newborn screening | Aciduria glutárica I | Cribado neonatal | Glutarilcarnitina | Glutarylcarnitine | Glutaric acidaemia type I
Journal Article
Annales de Pediatrie, ISSN 0066-2097, 1994, Volume 41, Issue 3, pp. 185 - 187
Journal Article
Neurologia, ISSN 0213-4853, 2001, Volume 16, Issue 8, pp. 377 - 380
Journal Article
Anales de Pediatria, ISSN 1695-4033, 2003, Volume 59, Issue 1, pp. 117 - 121
La aciduria glutárica tipo I es una enfermedad neurometabólica, de herencia autosómico recesiva (1 caso/ 30.000), caracterizada por discinesia y distonía... 
Vegetarian diet | Glutaryl CoA dehydrogenase deficiency | Dystonic-dyskinetic syndrome | Striatal necrosis | Imágenes RM | Aciduria glutírica tipo I | Necrosis estriatal | Síndrome distónico-discinético | Magnetic resonance images | Glutaric aciduria type I | Macrocefalia | Macrocephaly | Deficiencia glutaril-CoA deshidrogenasa
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, ISSN 1552-4868, 05/2006, Volume 142C, Issue 2, pp. 86 - 94
Glutaric acidemias comprise different disorders resulting in an increased urinary excretion of glutaric acid. Glutaric acidemia type 1 (GA-1) is an autosomal... 
striatal degeneration | macrocephaly | DIAGNOSTIC PITFALL | GENOTYPE | COA-DEHYDROGENASE-DEFICIENCY | PHENOTYPE | glutaric acidemia | VARIANT | dystonia | GENETICS & HEREDITY | DISORDER | ACIDURIA TYPE-I | ACIDEMIA TYPE-I | BRAIN
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 1/2018, Volume 41, Issue 1, pp. 91 - 99
Glutaric aciduria type I is a rare, autosomal recessive, inherited defect of glutaryl-CoA dehydrogenase. Deficiency of this protein in L-lysine degradation... 
Human Genetics | Biochemistry, general | Glutamate dehydrogenase | Pediatrics | Medicine & Public Health | Glutaric aciduria type 1 | Hypoxia-inducible factor 1-alpha | Metabolic Diseases | Internal Medicine | Glutaminolysis | MEDICINE, RESEARCH & EXPERIMENTAL | COA DEHYDROGENASE-DEFICIENCY | NEURODEGENERATION | NATURAL-HISTORY | BLOOD-BRAIN-BARRIER | CHILDREN | METABOLISM | RECOMMENDATIONS | MOUSE MODEL | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | ACIDEMIA TYPE-I | ONCOMETABOLITE 2-HYDROXYGLUTARATE | Brain Diseases, Metabolic - pathology | Astrocytes - drug effects | Cell Line | Glutaryl-CoA Dehydrogenase - metabolism | Astrocytes - pathology | Glutamine - metabolism | Rats | Brain Diseases, Metabolic - metabolism | Cell Hypoxia | Amino Acid Metabolism, Inborn Errors - metabolism | Animals | Enzyme Inhibitors - toxicity | Glutarates - toxicity | Glutamate Dehydrogenase - antagonists & inhibitors | Amino Acid Metabolism, Inborn Errors - pathology | Cell Death - drug effects | Glutamine - pharmacology | Glutamate Dehydrogenase - metabolism | Astrocytes - metabolism | Glutaryl-CoA Dehydrogenase - deficiency | Starvation | Metabolites | Lysine | Neurons | Cell death | Glutamate | Glutamine | Cell culture | Energy metabolism | Basal ganglia | Dehydrogenases | Toxicity | Astrocytes | Glutaryl-CoA dehydrogenase | L-lysine | Aciduria | Protein deficiency | Metabolism | Ganglia | Neurotoxicity | Hypoxia | Children | Dystonia | Fetal calf serum | Apoptosis
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 1/2017, Volume 40, Issue 1, pp. 75 - 101
Journal Article
Journal Article