Browse Items (8 total)
- Tags: Lipid Metabolism
Clinical and biochemical spectrum of D-bifunctional protein deficiency
Tags: 2006, 3-Hydroxyacyl CoA Dehydrogenases/deficiency, Annals Of Neurology, Backlog, Barth PG, Blood Chemical Analysis, Boltshauser E, Bone and Bones/anatomy & histology/pathology, Brain/anatomy & histology/pathology, Child, Cohort Studies, Dekker C, Denis S, Duran M, Enoyl-CoA Hydratase/deficiency, Ferdinandusse S, Fibroblasts/cytology/metabolism, Gartner J, Humans, Inborn Errors, Infant, Isomerases/deficiency, Journal Article, Kidney/anatomy & histology/pathology, Life Expectancy, Lipid Metabolism, Liver/anatomy & histology/pathology, Longitudinal Studies, Macaya A, Magnetic Resonance Imaging, Majoie CB, Mooyer PA, Multienzyme Complexes/deficiency, Peroxisomal Disorders/classification/pathology/physiopathology, Poll-The BT, Preschool, Questionnaires, Soorani-Lunsing RJ, Wanders RJ
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency
Tags: 2005, Acyl-CoA Dehydrogenase, Andresen BS, Backlog, Bischoff C, Bonham JR, Cardiomyopathies/diagnosis/genetics, Carnitine/analogs & derivatives/metabolism, Chakrapani A, Clark S, Downing M, Exons, Fatty Acids/metabolism, Fibroblasts/metabolism, Gregersen N, Homozygote, Humans, Inborn Errors/diagnosis/genetics, Journal Article, Journal Of Inherited Metabolic Disease, Lipid Metabolism, Long-Chain/deficiency, Longitudinal Studies, Male, Manning NJ, Mitochondria/pathology, Multienzyme Complexes/deficiency, Muntoni F, Mutation, Olpin SE, Olsen RK, Phenotype, Polyneuropathies/diagnosis/genetics, Pourfarzam M, Prognosis, Rhabdomyolysis/diagnosis/genetics, Sharrard M, Turnbull DN
The biochemical basis of metabolism in cancer cachexia
Tags: 2004, Anorexia/etiology, Antineoplastic Agents/therapeutic use, Appetite Stimulants/therapeutic use, Backlog, Cachexia/etiology/metabolism/mortality/physiopathology/therapy, Carbohydrate Metabolism, Cytokines/antagonists & inhibitors/physiology, Dimensions Of Critical Care Nursing, Disease Progression, Energy Metabolism, Humans, Hydrazines/therapeutic use, Journal Article, Lipid Metabolism, Neoplasms/complications, Nutritional Failure, Nutritional Support/methods, Proteins/metabolism, Survival Rate, Tijerina AJ, Weight Loss
Therapeutic modification of membrane lipid abnormalities in juvenile neuronal ceroid-lipofuscinosis (Batten disease).
Tags: 1988, Adolescent, American Journal Of Medical Genetics, Backlog, Bennett MJ, Cartwright IJ, Corn Oil/therapeutic use, Dietary Fats, Fish Oils/therapeutic use, Follow-up Studies, Galloway JH, Gayton R, Hosking GP, Humans, Journal Article, Lipid Metabolism, Lipoproteins/blood, Longitudinal Studies, Neuronal Ceroid-Lipofuscinoses/diet therapy/drug therapy/therapy, Thompson G
Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome
Tags: 1980, Angelini C, Backlog, Brown WJ, Carnitine/deficiency/metabolism/therapeutic use, Cederbaum SD, Chapoy PR, Child, Diagnosis, Differential, Humans, Inborn Errors/diagnosis, Journal Article, Lipid Metabolism, Liver/metabolism, Male, Muscles/metabolism, Preschool, Q3 Scoping Review Results, Reye Syndrome/diagnosis, Shug AL, Stiff JE, The New England Journal Of Medicine
Magnetic resonance spectroscopy in Niemann-Pick disease type C: Correlation with diagnosis and clinical response to cholestyramine and lovastatin.
Tags: 1994, Arnold DL, Backlog, Brain/drug effects/metabolism/pathology, Cholesterol, Cholestyramine/administration & dosage/adverse effects, Chromosome Aberrations/genetics, Chromosome Disorders, Combined Modality Therapy, Dietary/administration & dosage, Follow-up Studies, Genes, Humans, Infant, Journal Article, Lipid Metabolism, Longitudinal Studies, Lovastatin/administration & dosage/adverse effects, Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, Male, Neuropsychological Tests, Niemann-Pick Diseases/diagnosis/drug therapy/genetics, Pediatric Neurology, Recessive/genetics, Schreiber R, Scriver CR, Shevell MI, Sylvain M
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients
Tags: 1997, 3-Hydroxyacyl CoA Dehydrogenases/deficiency, Backlog, Cardiomyopathies/etiology, Fatal Outcome, Female, Humans, Hypoglycemia/etiology, Inborn Errors/complications/diet therapy/genetics, Infant, Jackson S, Journal Article, Lipid Metabolism, Liver Diseases/etiology, Male, Muscle Hypotonia/etiology, Mutation, Newborn, Palotie A, Pihko H, Q3 Scoping Review Results, Retinal Diseases/etiology, Salo MK, The Journal Of Pediatrics, Tyni T, Valanne L, Venizelos N, Viinikka L, von Dobeln U, Wanders R
Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency
Tags: 1994, Acyl-CoA Dehydrogenase, Adolescent, Archives of Disease in Childhood, Backlog, Child, Deficiency Diseases/epidemiology, Fatty Acid Desaturases/deficiency, Hammond J, Hemiplegia/complications, Humans, Inborn Errors/epidemiology/mortality, Incidence, Infant, Journal Article, Lipid Metabolism, Morbidity, New South Wales/epidemiology, Newborn, Preschool, Prognosis, Q3 Scoping Review Results, Silink M, Wilcken B