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One or more keywords matched the following properties of Bodamer, Olaf
keywords Newborn screening
One or more keywords matched the following items that are connected to Bodamer, Olaf
Item TypeName
Academic Article Protein turnover in critically ill children.
Academic Article Enhanced interpretation of newborn screening results without analyte cutoff values.
Concept Infant, Newborn
Concept Mass Screening
Concept Neonatal Screening
Concept High-Throughput Screening Assays
Academic Article Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
Academic Article Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Academic Article Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders.
Academic Article Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry.
Academic Article Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.
Academic Article Screening for late-onset Pompe disease in Finland.
Academic Article Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry.
Academic Article Semi-quantitative method for determination of hematocrit in dried blood spots, using data collected in HPLC hemoglobin variant testing.
Academic Article The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape.
Academic Article Analysis of lyso-globotriaosylsphingosine in dried blood spots.
Academic Article Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: application to a small-scale population study for five lysosomal storage disorders.
Academic Article Diagnosis of lysosomal storage disorders: Gaucher disease.
Academic Article Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria.
Academic Article Diagnosing lysosomal storage disorders: Pompe disease.
Academic Article Laboratory and genetic evaluation of Gaucher disease.
Academic Article Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry.
Academic Article Analysis of acid sphingomyelinase activity in dried blood spots using tandem mass spectrometry.
Academic Article Newborn screening for lysosomal storage disorders in hungary.
Academic Article Screening for leukemia- and clone-specific markers at birth in children with T-cell precursor ALL suggests a predominantly postnatal origin.
Academic Article Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.
Academic Article Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III.
Academic Article The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).
Academic Article Prenatal and postnatal treatment in cobalamin C defect.
Academic Article Diagnosing lysosomal storage disorders: Fabry disease.
Academic Article Familial complex chromosomal rearrangement resulting in a recombinant chromosome.
Academic Article Long-term stability of amino acids and acylcarnitines in dried blood spots.
Academic Article Newborn screening in Fabry disease: what can be achieved with early diagnosis?
Academic Article Evidence for an association between mannose-binding lectin 2 (MBL2) gene polymorphisms and pre-term birth.
Academic Article Bridging the gaps between the histopathological and demographic risk factors of preterm birth in a unique Miami inner-city population.
Academic Article Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.
Academic Article Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry.
Academic Article Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.
Academic Article Assessment of energy expenditure in metabolic disorders.
Academic Article Measurement of glucose turnover--implications for the study of inborn errors of metabolism.
Academic Article Expanded newborn screening in Europe 2007.
Academic Article Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome?
Academic Article Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type I.
Academic Article Atypical presentation of amniotic band sequence.
Academic Article Update on transcobalamin deficiency: clinical presentation, treatment and outcome.
Academic Article Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres.
Academic Article Propionic acidemia: neonatal versus selective metabolic screening.
Academic Article Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I.
Academic Article Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening.
Academic Article Measurement of carbon dioxide production in very low birth weight babies.
Academic Article Importance of measuring plasma cholesterol precursors.
Academic Article Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.
Academic Article Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?
Academic Article Newborn Screening for Lysosomal Storage Disorders.
Academic Article Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.
Academic Article Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.
Academic Article Newborn Screening for Pompe Disease.
Academic Article Expanding the clinical spectrum of biallelic ZNF335 variants.
Academic Article De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Academic Article A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome.
Academic Article Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Academic Article Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.
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.