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One or more keywords matched the following items that are connected to Bennett, Michael
Item TypeName
Academic Article PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
Academic Article Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation.
Academic Article Reverse genetics. Screening plant populations for gene knockouts.
Academic Article Polyunsaturated fatty acids reverse the lysosomal storage and accumulation of subunit 9 of mitochondrial F1F0-ATP synthase in cultured lymphoblasts from patients with Batten disease.
Academic Article Regulation of biologically active dimeric inhibin A and B from infancy to adulthood in the male.
Academic Article In-utero and post-delivery supplementation of motor neuron degeneration mutant mice with polyunsaturated fatty acids does not alter the clinical or pathological course.
Academic Article 3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children.
Academic Article Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.
Academic Article Ichthyosis and keratotic follicular plugs containing dystrophic calcification in newborns: distinctive histopathologic features of x-linked dominant chondrodysplasia punctata (Conradi-H√ľnermann-Happle syndrome).
Academic Article Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.
Academic Article The metabolic autopsy comes of age.
Academic Article Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study.
Academic Article Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death.
Academic Article A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.
Academic Article When do gut flora in the newborn produce 3-phenylpropionic acid? Implications for early diagnosis of medium-chain acyl-CoA dehydrogenase deficiency.
Academic Article CLN3P, the Batten disease protein, localizes to membrane lipid rafts (detergent-resistant membranes).
Academic Article Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.
Academic Article Hyperinsulinism in infancy and childhood: when an insulin level is not always enough.
Academic Article Screening for MCAD deficiency in newborns.
Academic Article Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency.
Academic Article Acquired deficiency of long-chain acyl-CoA dehydrogenase in liver: a cautionary tale.
Academic Article IFCC-standardized pediatric reference intervals for 10 serum proteins using the Beckman Array 360 system.
Academic Article National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary.
Academic Article Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.
Academic Article CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
Academic Article Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency.
Academic Article Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency.
Academic Article Use of high-fat formula for premature infants with bronchopulmonary dysplasia: metabolic, pulmonary, and nutritional studies.
Academic Article Fatty acid oxidation defects as causes of unexpected death in infancy.
Academic Article Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD).
Academic Article Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency.
Academic Article Lethal multiple acyl-CoA dehydrogenation deficiency with dysmorphic features.
Academic Article Population screening for medium-chain acyl-CoA dehydrogenase deficiency: analysis of medium-chain fatty acids and acylglycines in blood spots.
Academic Article Medium-chain acyl-CoA dehydrogenase deficiency presenting in the neonatal period: the first Italian case.
Academic Article Identification of urinary metabolites of (+/-)-2-(p-isobutylphenyl)propionic acid (Ibuprofen) by routine organic acid screening.
Academic Article Fibroblast studies documenting a case of peroxisomal 2-methylacyl-CoA racemase deficiency: possible link between racemase deficiency and malabsorption and vitamin K deficiency.
Academic Article Routine ultrasound and the gynaecology visit.
Academic Article Comparison of post-mortem urinary and vitreous humour organic acids.
Academic Article The routine investigation of urinary organic acids in selected paediatric patients: results over a 2 1/2-year period.
Academic Article N-acetylaspartylglutamate in Canavan disease: an adverse effector?
Academic Article Limitations of 3-phenylpropionylglycine in early screening for medium-chain acyl-coenzyme A dehydrogenase deficiency.
Academic Article Increased C3-carnitine in a healthy premature infant.
Academic Article Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry.
Academic Article The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry.
Academic Article Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.
Academic Article Use of newborn liver cells as a murine model for cord blood cell transplantation.
Academic Article General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.
Academic Article The value of the metabolic autopsy in the pediatric hospital setting.
Academic Article Glutaric aciduria type II: biochemical investigation and treatment of a child diagnosed prenatally.
Academic Article Excretion of dicarboxylic acids in preterm infants fed medium- or long-chain triglycerides.
Academic Article A quality assurance program for the measurement of capillary blood cholesterol levels in private pediatric practices. The Children's Health Project.
Academic Article Screening siblings for inborn errors of fatty acid metabolism in families with a history of sudden infant death.
Academic Article Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile.
Academic Article Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter.
Academic Article Simpler liquid-chromatographic screening for organic acid disorders.
Academic Article Experience with a simple high-performance liquid chromatography method for the analysis of purine and pyrimidine nucleosides and bases in biological fluids.
Academic Article Heterozygosity for long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and deterioration in liver function in a newborn infant infected with human immunodeficiency virus.
Academic Article Intact alpha-subunit is required for membrane-binding of human mitochondrial trifunctional beta-oxidation protein, but is not necessary for conferring 3-ketoacyl-CoA thiolase activity to the beta-subunit.
Academic Article Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.
Academic Article The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.
Academic Article The cost of implementation of the Clinical Laboratory Improvement Amendments of 1988--the example of pediatric office-based cholesterol screening.
Academic Article Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Academic Article Tiglylglycine excreted in urine in disorders of isoleucine metabolism and the respiratory chain measured by stable isotope dilution GC-MS.
Academic Article Metabolic disease and sudden, unexpected death in infancy.
Academic Article Fetal polycystic kidney disease associated with glutaric aciduria type II: an inborn error of energy metabolism.
Academic Article Short-chain acyl-coenzyme A dehydrogenase deficiency.
Academic Article Pregnancies associated with low maternal serum alpha-fetoprotein concentrations.
Concept Infant, Newborn
Concept Animals, Newborn
Concept Mass Screening
Concept Neonatal Screening
Academic Article Pyruvate carboxylase deficiency in twins.
Academic Article Successful pregnancy in acute monocytic leukaemia.
Academic Article Generalised dicarboxylic aciduria: a common finding in neonates.
Academic Article The camptomelic syndrome in two female siblings.
Academic Article Mutations in long-chain 3-hydroxyacyl coenzyme a dehydrogenase are associated with placental maternal floor infarction/massive perivillous fibrin deposition.
Academic Article Clinical applications of 3-hydroxy fatty acid analysis by gas chromatography-mass spectrometry.
Academic Article Experience with the Jostra Rotaflow and QuadroxD oxygenator for ECMO.
Academic Article Acute neonatal citrullinaemia.
Academic Article Screening for calcium channel modulators in CLN3 siRNA knock down SH-SY5Y neuroblastoma cells reveals a significant decrease of intracellular calcium levels by selected L-type calcium channel blockers.
Academic Article Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening.
Academic Article Newborn screening for metabolic disorders: how are we doing, and where are we going?
Academic Article Defects of metabolism of fatty acids in the sudden infant death syndrome.
Academic Article Differential white blood cell counts as a preliminary screen for severe combined immunodeficient congenic mice.
Academic Article Newborn screening for metabolic diseases: saving children's lives and improving outcomes.
Academic Article Clinical and biochemical characterization of four patients with mutations in ECHS1.
Search Criteria
  • Newborn
  • screening
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.