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
- Approach to the interpretation of unexpected laboratory results arising in the care of patients with inborn errors of metabolism (IEM) 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
- Controversies Around Measuring Drug Toxicity: US Food and Drug Administration and Gastrointestinal Perspectives 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
- Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer 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
- 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
- Incomplete pediatric reference intervals for the management of patients with inborn errors of metabolism 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 Academic Article
- Metabolic Myopathies: Update 2009 Academic Article
- Mitochondria, oxygen free radicals, disease and ageing Academic Article
- New Advances for Newborn Screening of Inborn Errors of Metabolism by Capillary Electrophoresis-Mass Spectrometry (CE-MS) 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
- Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency 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