subject area of
- A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism Journal Articles
- A simplified technique for the culture of amniotic fluid cells Journal Articles
- An infant with methylmalonic aciduria and homocystinuria (cblC) presenting with retinal haemorrhages and subdural haematoma mimicking non-accidental injury. Journal Articles
- Approach to the interpretation of unexpected laboratory results arising in the care of patients with inborn errors of metabolism (IEM) Journal Articles
- Assignment by deletion of human red cell acid phosphatase gene locus to the short arm of chromosome 2. Journal Articles
- Central nervous system malformations in ethylmalonic encephalopathy Journal Articles
- Clinical, enzymatic and molecular characterization of nine new patients with malonyl‐coenzyme A decarboxylase deficiency Journal Articles
- Controversies Around Measuring Drug Toxicity: US Food and Drug Administration and Gastrointestinal Perspectives Journal Articles
- Enamel defects and salivary methylmalonate in methylmalonic acidemia Journal Articles
- Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism Journal Articles
- Expanded Newborn Screening of Inborn Errors of Metabolism by Capillary Electrophoresis-Electrospray Ionization-Mass Spectrometry (CE-ESI-MS) Journal Articles
- Extracorporeal pediatric renal replacement therapy: diversifying application beyond kidney failure. Journal Articles
- Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer Journal Articles
- Fumarate Hydratase–deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome Journal Articles
- Homocysteine in the prevention of ischemic heart disease, stroke and venous thromboembolism: therapeutic target or just another distraction? Journal Articles
- Incomplete pediatric reference intervals for the management of patients with inborn errors of metabolism Journal Articles
- Integration of Metabolic and Gene Regulatory Networks Modulates the C. elegans Dietary Response Journal Articles
- Leukotrienes and the brain Journal Articles
- Mass spectrometry and clinical chemistry Journal Articles
- Metabolic Myopathies Journal Articles
- Metabolic Myopathies Journal Articles
- Metabolic Myopathies: Update 2009 Journal Articles
- Mitochondria, oxygen free radicals, disease and ageing Journal Articles
- New Advances for Newborn Screening of Inborn Errors of Metabolism by Capillary Electrophoresis-Mass Spectrometry (CE-MS) Journal Articles
- Newborn Screening of Inborn Errors of Metabolism by Capillary Electrophoresis−Electrospray Ionization-Mass Spectrometry: A Second-Tier Method with Improved Specificity and Sensitivity Journal Articles
- Patient selection may affect gene therapy success. Dominant negative effects observed for ornithine transcarbamylase in mouse and human hepatocytes. Journal Articles
- Prenatal Diagnosis of Genetic Disorders: Trials and Tribulations Journal Articles
- Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency Journal Articles
- 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 Journal Articles
- The diagnosis of inborn errors of metabolism by examination of the genotype Journal Articles
- The genotypic and phenotypic spectrum of MTO1 deficiency Journal Articles