Browse Items (7 total)
- Tags: Metabolic
An update on the leukodsytrophies
Tags: 2001, Adult, Backlog, Boespflug-Tanguy O, Brain Diseases, Child, Current Opinion in Neurology, Diagnosis, Differential, Diseases/diagnosis/genetics, Glial Fibrillary Acidic Protein/genetics, Hereditary Central Nervous System Demyelinating, Human, Inborn/diagnosis/genetics, Journal Article, Metabolic, Myelin Proteolipid Protein/genetics, P.H.S., Schiffmann R, Support, U.S. Gov't
Neurologic course of congenital disorders of glycosylation
Tags: 2001, Aspartic Acid/analogs & derivatives/metabolism, Backlog, Brain Diseases, Brain/pathology/physiopathology, Carbohydrate-Deficient Glycoprotein Syndrome/diagnosis, Child, Developmental Disabilities/diagnosis, Epilepsy/diagnosis, Female, Humans, Inborn/diagnosis, Infant, Journal Article, Journal of Child Neurology, Krasnewich D, Lactic Acid/metabolism, Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, Male, Metabolic, Nerve Degeneration/diagnosis, Neurologic Examination, Pearl PL, Preschool, Q3 Scoping Review Results, Stroke/diagnosis
Neurologic presentations of mitochondrial disorders
Tags: 2000, Backlog, Barash V, Brain Diseases, Child, Deafness/diagnosis/genetics, Developmental Disabilities/diagnosis/genetics, Fattal-Valevski A, Female, Follow-up Studies, Gutman A, Harel S, Humans, Inborn/diagnosis/genetics, Journal Article, Journal of Child Neurology, Lerman-Sagie T, Lev D, Male, MELAS Syndrome/diagnosis/genetics, Mental Retardation/diagnosis/genetics, MERRF Syndrome/diagnosis/genetics, Metabolic, Mitochondrial Myopathies/diagnosis/genetics, Neurologic Examination, Nissenkorn A, Q3 Scoping Review Results, Watemberg N, Zeharia A
Type I glutaric aciduria, part 1: natural history of 77 patients
Tags: 2003, American Journal Of Medical Genetics.Part C, Seminars In Medical Genetics, Backlog, Brain Diseases, Chromosomes, Dystonia/complications, Glutarates/urine, Glutaryl-CoA Dehydrogenase, Human, Humans, Inborn/complications/diet therapy/drug therapy/genetics, Journal Article, Lysine/metabolism, Magnetic Resonance Imaging, Metabolic, Morton DH, Mutation/genetics, Necrosis, Oxidoreductases Acting on CH-CH Group Donors/deficiency/genetics/metabolism, Pair 19/genetics, Puffenberger EG, Putamen/blood supply/pathology, Q3 Scoping Review Results, Robinson DL, Strauss KA, Tryptophan/metabolism
Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency
Tags: 2005, Age of Onset, Aged, Atrophy/enzymology/genetics/physiopathology, Backlog, Bodamer OA, Brain Diseases, Carnitine/therapeutic use, Cerebral Cortex/enzymology/pathology/physiopathology, Cognition Disorders/enzymology/genetics/physiopathology, Disease Progression, DNA Mutational Analysis, Food, Formulated, Glutaryl-CoA Dehydrogenase/deficiency, Gruber S, Harting I, Hoffmann GF, Humans, Inborn/enzymology/genetics/physiopathology, Journal Article, Kolker S, Kulkens S, Lateral Ventricles/pathology, Magnetic Resonance Imaging, Male, Metabolic, Movement Disorders/enzymology/genetics/physiopathology, Mutation/genetics, Myelinated/pathology, Nerve Fibers, Neurology, Q3 Scoping Review Results, Sauer S, Treatment Outcome, Zschocke J
New treatment paradigms in neonatal metabolic epilepsies.
Tags: 2009, Backlog, Brain Diseases, Electroencephalography, Epilepsy/cn [Congenital], Epilepsy/ge [Genetics], Epilepsy/th [Therapy], Humans, Inborn/ge [Genetics], Inborn/th [Therapy], Infant, Journal Article, Journal Of Inherited Metabolic Disease, KT Synthesis, Metabolic, Newborn, Pearl PL, Pyridoxine/ph [Physiology], Seizures/cn [Congenital], Seizures/et [Etiology], Seizures/th [Therapy], Vitamin B 6 Deficiency/ge [Genetics], Vitamin B 6 Deficiency/pp [Physiopathology]