Metabolism, Inborn Errors Concept

subject area of

• A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism  Academic Article
• A simplified technique for the culture of amniotic fluid cells  Academic Article
• Central nervous system malformations in ethylmalonic encephalopathy  Academic Article
• Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency  Academic Article
• Enamel defects and salivary methylmalonate in methylmalonic acidemia  Academic Article
• Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism  Academic Article
• Expanded Newborn Screening of Inborn Errors of Metabolism by Capillary Electrophoresis-Electrospray Ionization-Mass Spectrometry (CE-ESI-MS)  Academic Article
• Fumarate Hydratase–deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome  Academic Article
• Glucose Transporter Type I Deficiency (G1D) at 25 (1990-2015): Presumptions, Facts, and the Lives of Persons With This Rare Disease  Academic Article
• Growth Hormone (GH) Replacement Therapy in Adult-Onset GH Deficiency: Effects on Body Composition in Men and Women in a Double-Blind, Randomized, Placebo-Controlled Trial  Academic Article
• Homocysteine in the prevention of ischemic heart disease, stroke and venous thromboembolism: therapeutic target or just another distraction?  Academic Article
• Integration of Metabolic and Gene Regulatory Networks Modulates the C. elegans Dietary Response  Academic Article
• Leukotrienes and the brain  Academic Article
• Mass spectrometry and clinical chemistry  Academic Article
• Metabolic Myopathies: Update 2009  Academic Article
• Mitochondria, oxygen free radicals, disease and ageing  Academic Article
• Newborn Screening of Inborn Errors of Metabolism by Capillary Electrophoresis−Electrospray Ionization-Mass Spectrometry: A Second-Tier Method with Improved Specificity and Sensitivity  Academic Article
• Patient selection may affect gene therapy success. Dominant negative effects observed for ornithine transcarbamylase in mouse and human hepatocytes.  Academic Article
• Prenatal diagnosis of genetic disorders: trials and tribulations.  Academic Article
• Temporal Signal Pattern Recognition in Mass Spectrometry: A Method for Rapid Identification and Accurate Quantification of Biomarkers for Inborn Errors of Metabolism with Quality Assurance  Academic Article
• The diagnosis of inborn errors of metabolism by examination of the genotype  Academic Article
• The genotypic and phenotypic spectrum of MTO1 deficiency  Academic Article
• Three novel thiopurine S-methyltransferase allelic variants (TPMT*20, *21, *22) – association with decreased enzyme function  Academic Article