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Brain, ISSN 0006-8950, 7/2009, Volume 132, Issue 7, pp. 1764 - 1782
In glutaric aciduria type I, an autosomal recessive disease of mitochondrial lysine, hydroxylysine and tryptophan catabolism, striatal lesions are... 
Striatum | Maturation | Metabolism | Brain injury | Neuroradiology | neuroradiology | 3-HYDROXYGLUTARIC ACID | WHITE-MATTER | COA DEHYDROGENASE-DEFICIENCY | NATURAL-HISTORY | NEUROSCIENCES | CLINICAL NEUROLOGY | maturation | brain injury | striatum | MOUSE MODEL | BLOOD-VESSELS | GERMINAL MATRIX | metabolism | ACIDEMIA TYPE-I | TIGHT JUNCTION PROTEINS | ENCEPHALOPATHIC CRISES | Neurological Impairments | Neonates | Brain | Diagnostic Tests | Screening Tests | Disabilities | Patients | Diseases | Brain Hemisphere Functions | Comparative Analysis | Head Injuries | Genetics | Injuries | Symptoms (Individual Disorders) | Age Factors | Follow-Up Studies | Humans | Middle Aged | Child, Preschool | Infant | Brain Diseases, Metabolic, Inborn - diagnosis | Amino Acid Metabolism, Inborn Errors - diagnosis | Atrophy | Young Adult | Amino Acid Metabolism, Inborn Errors - metabolism | Adult | Brain Diseases, Metabolic, Inborn - pathology | Child Development | Retrospective Studies | Amino Acid Metabolism, Inborn Errors - pathology | Child | Corpus Striatum - pathology | Infant, Newborn | Acute Disease | Brain Diseases, Metabolic, Inborn - metabolism | Movement Disorders - pathology | Intellectual Disability - pathology | Basal Ganglia - pathology | Brain Mapping - methods | Disease Progression | Cerebellum - pathology | Magnetic Resonance Imaging | Movement Disorders - etiology | Adolescent | Brain - pathology | Aged | Glutaryl-CoA Dehydrogenase - deficiency
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2016, Volume 39, Issue 3, pp. 341 - 353
Journal Article
Pediatric Research, ISSN 0031-3998, 03/2015, Volume 77, Issue 3, pp. 398 - 405
Primary care pediatricians and a variety of specialist physicians strive to define an accurate diagnosis for children presenting with impairment of expressive... 
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | AMIDINOTRANSFERASE AGAT DEFICIENCY | SLC6A8 DEFICIENCY | GAMT DEFICIENCY | LINKED MENTAL-RETARDATION | ARGININE RESTRICTION | PROTON NMR-SPECTROSCOPY | MAGNETIC-RESONANCE | PEDIATRICS | TRANSPORTER DEFICIENCY | INBORN ERROR | Developmental Disabilities - drug therapy | Humans | Movement Disorders - diagnosis | Amidinotransferases - genetics | Language Development Disorders - etiology | Male | Movement Disorders - epidemiology | Amino Acid Metabolism, Inborn Errors - epidemiology | Incidence | Speech Disorders - pathology | Developmental Disabilities - pathology | Amino Acid Metabolism, Inborn Errors - genetics | Language Development Disorders - epidemiology | Brain Diseases, Metabolic, Inborn - pathology | Amino Acid Metabolism, Inborn Errors - pathology | Brain Diseases, Metabolic, Inborn - genetics | Intellectual Disability - epidemiology | Creatine - genetics | Mental Retardation, X-Linked - pathology | Creatine - biosynthesis | Intellectual Disability - pathology | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Developmental Disabilities - epidemiology | Speech Disorders - epidemiology | Utah - epidemiology | Brain Diseases, Metabolic, Inborn - drug therapy | Movement Disorders - genetics | Amino Acid Metabolism, Inborn Errors - drug therapy | Mental Retardation, X-Linked - epidemiology | Language Development Disorders - drug therapy | Speech Disorders - drug therapy | Guanidinoacetate N-Methyltransferase - genetics | Infant | Developmental Disabilities - genetics | Brain Diseases, Metabolic, Inborn - epidemiology | Creatine - blood | Creatine - physiology | Mental Retardation, X-Linked - drug therapy | Brain Diseases, Metabolic, Inborn - diagnosis | Intellectual Disability - genetics | Amino Acid Metabolism, Inborn Errors - diagnosis | Mental Retardation, X-Linked - genetics | Language Development Disorders - diagnosis | Mental Retardation, X-Linked - diagnosis | Creatine - deficiency | Female | Developmental Disabilities - diagnosis | Speech Disorders - diagnosis | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Amidinotransferases - deficiency | Magnetic Resonance Spectroscopy - methods | Creatine - urine | Language Development Disorders - genetics | Movement Disorders - pathology | Language Development Disorders - pathology | Speech Disorders - genetics | Intellectual Disability - drug therapy | Guanidinoacetate N-Methyltransferase - deficiency | Intellectual Disability - diagnosis | Movement Disorders - congenital | Sex Factors | Movement Disorders - drug therapy
Journal Article
Cell, ISSN 0092-8674, 02/2018, Volume 172, Issue 5, pp. 952 - 965.e18
Journal Article
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 10/2015, Volume 168, Issue 7, pp. 586 - 594
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2013, Volume 92, Issue 4, pp. 627 - 631
Journal Article
Neurochemistry International, ISSN 0197-0186, 2010, Volume 56, Issue 3, pp. 367 - 378
This review is devised to gather the presently known inborn errors of purine metabolism that manifest neurological pediatric syndromes. The aim is to draw a... 
Hypoxanthine–guanine phosphoribosyltransferase | Purine dismetabolisms | Purine nucleoside phosphorylase | Neurological syndromes | 5′-Nucleotidase | Adenylosuccinate lyase | Adenosine deaminase | 5-Amino-4-imidazolecarboxamide ribotide transformylase/IMP cyclohydrolase | Phosphoribosylpyrophosphate synthetase | Deoxyguanosine kinase | Hypoxanthine-guanine phosphoribosyltransferase | Hypoxanthine-guanine phosphoribosyltransferase Deoxyguanosine kinase | SEVERE COMBINED IMMUNODEFICIENCY | ACTIVATED PROTEIN-KINASE | HUMAN PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | NEUROSCIENCES | ADENYLOSUCCINATE LYASE DEFICIENCY | RIBOSIDE INDUCES APOPTOSIS | LESCH-NYHAN-DISEASE | HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE | NUCLEOSIDE-PHOSPHORYLASE-DEFICIENCY | MITOCHONDRIAL-DNA DEPLETION | ADENOSINE-DEAMINASE DEFICIENCY | 5 '-Nucleotidase | Purine-Pyrimidine Metabolism, Inborn Errors - metabolism | Neurons - pathology | Central Nervous System - metabolism | Age Factors | Brain Diseases, Metabolic, Inborn - metabolism | Purines - metabolism | Humans | Child, Preschool | Infant | Nucleotides - metabolism | Brain Diseases, Metabolic, Inborn - physiopathology | Central Nervous System - growth & development | Brain Diseases, Metabolic, Inborn - pathology | Metabolic Networks and Pathways - physiology | Neurons - metabolism | Central Nervous System - physiopathology | Child | Purine-Pyrimidine Metabolism, Inborn Errors - pathology | Enzymes - metabolism | Infant, Newborn | Purine-Pyrimidine Metabolism, Inborn Errors - physiopathology | Pediatrics | Enzymes | Alkaloids | Adenosine | Medical errors | Genetic disorders | Guanosine | Physiological aspects | Nucleotides
Journal Article