Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns.

No abstract is available for this paper.

• Publication year

  2003

• Venue

  Clinical Chemistry

• Publication date

  2003-11-01

• Fields of study

  Medicine, Chemistry

• Identifiers
  DOI 10.1373/CLINCHEM.2003.022178PMID 14578311
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Neonatal screening for inborn errors of metabolism.

  2005influential reference
• DNA techniques for screening of inborn errors of metabolism

  2005cited by this paper
• Quantification of glutamine in dried blood spots and plasma by tandem mass spectrometry for the biochemical diagnosis and monitoring of ornithine transcarbamylase deficiency.

  2003cited by this paper
• Mass spectrometry-based diagnostics: the upcoming revolution in disease detection has already arrived.

  2003cited by this paper
• Population screening in the age of genomic medicine.

  2003cited by this paper
• Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency.

  2003cited by this paper
• Neonatal Blood Carnitine Concentrations: Normative Data by Electrospray Tandem Mass Spectometry

  2003cited by this paper
• Measuring Mass: From Positive Rays to Proteins

  2003cited by this paper
• Bacterial Genomes and Infectious Diseases

  2003cited by this paper
• Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

  2003cited by this paper
• Validation of an ESI-MS/MS screening method for acylcarnitine profiling in urine specimens of neonates, children, adolescents and adults.

  2003cited by this paper
• Rare Disorders of Metabolism with Elevated Butyryl- and Isobutyryl-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

  2003cited by this paper
• Screening newborns for inborn errors of metabolism by tandem mass spectrometry.

  2003cited by this paper
• A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency.

  2002cited by this paper
• Acylcarnitine Profiles of Preterm Infants Over the First Four Weeks of Life

  2002cited by this paper
• Expanded newborn screening in Bavaria: tracking to achieve requested repeat testing.

  2002cited by this paper
• Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, Canada.

  2002cited by this paper
• Tandem mass spectrometry and newborn screening: pilot data and review.

  2002cited by this paper
• Newborn screening with tandem mass spectrometry: examining its cost-effectiveness in the Wisconsin Newborn Screening Panel.

  2002cited by this paper
• Branched-chain organic acidurias.

  2002cited by this paper
• Plasma free and total carnitine measured in children by tandem mass spectrometry.

  2002cited by this paper
• Screening for inherited metabolic disease in newborn infants using tandem mass spectrometry

  2002cited by this paper
• The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism.

  2002cited by this paper
• Identification of incurred sulfonamide residues in eggs: methods for confirmation by liquid chromatography-tandem mass spectrometry and quantitation by liquid chromatography with ultraviolet detection.

  2002cited by this paper
• Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan.

  2002cited by this paper
• Analysis of Mitochondrial Fatty Acid Oxidation Intermediates by Tandem Mass Spectrometry from Intact Mitochondria Prepared from Homogenates of Cultured Fibroblasts, Skeletal Muscle Cells, and Fresh Muscle

  2002cited by this paper
• Fatty acid oxidation disorders.

  2002cited by this paper
• Application of tandem mass spectrometry to biochemical genetics and newborn screening.

  2002cited by this paper
• Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I.

  2001cited by this paper
• Multiple Acyl-CoA-Dehydrogenase Deficiency (MADD): Use of Acylcarnitines and Fatty Acids to Monitor the Response to Dietary Treatment

  2001cited by this paper
• Use of filter paper for the collection and analysis of human whole blood specimens.

  2001cited by this paper
• Postnatal Changes in Neonatal Acylcarnitine Profile

  2001cited by this paper
• Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.

  2001cited by this paper
• Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.

  2001cited by this paper
• Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration.

  2001cited by this paper
• Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry

  2001cited by this paper
• Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies

  2001cited by this paper
• Analysis of dicarboxylic acids by tandem mass spectrometry. High-throughput quantitative measurement of methylmalonic acid in serum, plasma, and urine.

  2001cited by this paper
• Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific.

  2001cited by this paper
• Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death.

  2001cited by this paper
• The metabolic autopsy comes of age.

  2001cited by this paper
• A rapid and quantitative mass spectrometry method for determining the concentration of acylcarnitines and aminoacids in amniotic fluid

  2001cited by this paper
• Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography-mass spectrometry.

  2001cited by this paper
• Analysis of amino acids as formamidene butyl esters by electrospray ionization tandem mass spectrometry.

  2001cited by this paper
• Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry.

  2001cited by this paper
• Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.

  2001cited by this paper
• Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profile

  2001cited by this paper
• Simultaneous measurement of antibodies to three HIV-1 antigens in newborn dried blood-spot specimens using a multiplexed microsphere-based immunoassay.

  2001cited by this paper
• Newborn screening by tandem mass spectrometry: gaining experience.

  2001cited by this paper
• A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency

  2001influential reference
• Using tandem mass spectrometry for metabolic disease screening among newborns. A report of a work group.

  2001cited by this paper
• The Metabolic and Molecular Bases of Inherited Disease

  2001cited by this paper
• Mass spectrometry in the clinical laboratory.

  2001cited by this paper
• Vaccinia (smallpox) vaccine: recommendations of the Advisory Committee on Immunization Practices (ACIP), 2001.

  2001cited by this paper
• Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns.

  2001cited by this paper
• Linkage analysis in the presence of errors I: complex-valued recombination fractions and complex phenotypes.

  2000cited by this paper
• Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism

  2000cited by this paper
• 2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency: A New Inborn Error of L-Isoleucine Metabolism

  2000cited by this paper
• Simultaneous measurement of thyroxine and thyrotropin from newborn dried blood-spot specimens using a multiplexed fluorescent microsphere immunoassay.

  2000cited by this paper
• Assay for free and total carnitine in human plasma using tandem mass spectrometry.

  2000cited by this paper
• Recoveries of phenylalanine from two sets of dried-blood-spot reference materials: prediction from hematocrit, spot volume, and paper matrix.

  2000cited by this paper
• Rapid determination of total homocysteine in blood spots by liquid chromatography-electrospray ionization-tandem mass spectrometry.

  2000cited by this paper
• Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase defiency

  2000cited by this paper
• The biochemical metabolite screen in the Munich ENU Mouse Mutagenesis Project: determination of amino acids and acylcarnitines by tandem mass spectrometry

  2000cited by this paper
• Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.

  2000cited by this paper
• DNA microarray technology for neonatal screening

  1999cited by this paper
• Detection of inherited metabolic disorders via tandem mass spectrometry in Thai infants.

  1999cited by this paper
• Quality assurance and standardization: summary of the satellite meeting, Turku, Finland, 11‐12 June 1999

  1999cited by this paper
• Reduction of false negative results in screening of newborns for homocystinuria.

  1999cited by this paper
• Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects

  1999cited by this paper
• Measurement of homocysteine concentrations and stable isotope tracer enrichments in human plasma.

  1999cited by this paper
• Automated Tandem Mass Spectrometry for Mass Newborn Screening for Disorders in Fatty Acid, Organic Acid, and Amino Acid Metabolism

  1999cited by this paper
• Screening blood spots for argininosuccinase deficiency by electrospray tandem mass spectrometry.

  1999cited by this paper
• Multiple acyl-coenzyme A dehydrogenase deficiency: diagnosis by acyl-carnitine analysis of a 12-year-old newborn screening card.

  1999cited by this paper
• State‐of‐the‐art for DNA technology in newborn screening

  1999cited by this paper
• A homogeneous and multiplexed immunoassay for high-throughput screening using fluorometric microvolume assay technology.

  1999cited by this paper
• Systemic effects of a short course of betamethasone compared with high‐dose inhaled budesonide in early childhood asthma

  1999cited by this paper
• Dietary supplements for the lactating mother: influence on the trace element content of milk

  1999cited by this paper
• Present newborn screening for phenylketonuria

  1999influential reference
• Modifications in electrospray tandem mass spectrometry for a neonatal-screening pilot study in Japan.

  1999cited by this paper
• Neuroendocrine regulation of food intake

  1999cited by this paper
• Intracerebral hemorrhage due to nosocomial aspergillosis following neurosurgery.

  1999cited by this paper
• Automated metabolic profiling and interpretation of GC/MS data for organic acidemia screening: a personal computer-based system.

  1999cited by this paper
• Application of electrospray tandem mass spectrometry to neonatal screening.

  1999cited by this paper
• Cow's milk versus formula in older infants: consequences for human nutrition

  1999cited by this paper
• Diagnosis of Mitochondrial Trifunctional Protein Deficiency in a Blood Spot from the Newborn Screening Card by Tandem Mass Spectrometry and DNA Analysis

  1999cited by this paper
• Method for the determination of total homocysteine in plasma and urine by stable isotope dilution and electrospray tandem mass spectrometry.

  1999cited by this paper
• A Personal Computer-Based System for Interpretation of Gas Chromatography Mass Spectrometry Data in the Diagnosis of Organic Acidaemias

  1999cited by this paper
• Sensitivity of electrospray-tandem mass spectrometry using the phenylalanine/tyrosine-ratio for differential diagnosis of hyperphenylalaninemia in neonates.

  1999influential reference
• The transition from fetus to neonate – an endocrine perspective

  1999cited by this paper
• Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia

  1999cited by this paper
• Validation of accuracy-based amino acid reference materials in dried-blood spots by tandem mass spectrometry for newborn screening assays.

  1999cited by this paper
• Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours.

  1998influential reference
• Diagnosis of isovaleric acidaemia by tandem mass spectrometry: False positive result due to pivaloylcarnitine in a newborn screening programme

  1998cited by this paper
• Newborn screening by tandem mass spectrometry: a new era.

  1998cited by this paper
• Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism.

  1998cited by this paper
• Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry

  1998cited by this paper
• Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life.

  1998cited by this paper
• Multivariate discrimination for phenylketonuria (PKU) and non-PKU hyperphenylalaninemia after analysis of newborns' dried blood-spot specimens for six amino acids by ion-exchange chromatography.

  1998cited by this paper
• A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism.

  1998cited by this paper

• J-Editing Proton MR Spectroscopy for Brain Signal Separation in Methylmalonic Acidemia: A Pediatric Case-Control Study.

  2026cites this paper
• Microgliosis, neuronal death, minor behavioral abnormalities and reduced endurance performance in alpha-ketoglutarate dehydrogenase complex deficient mice

  2025cites this paper
• Newborn Screening through the Ages: Evolution, Expansion, and Emerging Frontiers

  2025cites this paper
• Effects of lacto-vegetarian and vegan diets on glycemic responses and metabolite profiles in healthy adults: A randomized trial using continuous glucose monitoring and targeted metabolomics.

  2025cites this paper
• Integrating newborn genetic screening with traditional screening to improve newborn screening

  2025cites this paper
• Newborn screening for rare diseases: expanding the paradigm in the genomic era

  2025cites this paper
• Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China

  2025cites this paper
• Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias

  2025cites this paper
• Integrating Electrostatic Adsorption-Laser Desorption/Ionization-MS with a Derivative Full-Spectrum Internal Standard Approach for Acylcarnitine Quantification in Clinical Samples.

  2025cites this paper
• Docosahexaenoic acid supplementation in phenylketonuria: a systematic review

  2025cites this paper
• Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning

  2025cites this paper
• Exome sequencing and molecular dynamics simulation characterizes a compound heterozygous GCDH missense variant leading to glutaric aciduria type 1 in a paediatric patient from Jammu and Kashmir, India

  2025cites this paper
• The Pathogenesis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

  2025cites this paper
• Epidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran

  2025cites this paper
• Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment

  2025cites this paper
• Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis

  2025cites this paper
• Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes

  2024cites this paper
• Analysis of Metabolic Changes in Endogenous Metabolites and Diagnostic Biomarkers for Various Diseases Using Liquid Chromatography and Mass Spectrometry.

  2024cites this paper
• Fast Label‐Free Metabolic Profile Recognition Identifies Phenylketonuria and Subtypes

  2024cites this paper
• Prevalence of inherited metabolic disorders among newborns in Zhuzhou, a southern city in China

  2024cites this paper
• Determining the diagnostic value of the markers of congenital metabolic disorders by chromatography–mass spectrometry

  2024cites this paper
• Electric Field-Assisted Dried Blood Spot Sample Preparation for Analysis of Steroids using LC-MS/MS

  2024cites this paper
• Comparative analysis of gene and disease selection in genomic newborn screening studies

  2024cites this paper
• Improving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations

  2024cites this paper
• Digital-Tier Strategy Improves Newborn Screening for Glutaric Aciduria Type 1

  2024cites this paper
• Bioinert UHPLC system improves sensitivity and peak shapes for ionic metabolites.

  2024cites this paper
• Metabolomic profiling of Prader-Willi syndrome compared with essential obesity

  2024cites this paper
• Newborn Screening for the Early Detection of Congenital Hypothyroidism: A Countrywide Comprehensive Program of Bangladesh Atomic Energy Commission

  2024cites this paper
• The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges

  2024cites this paper
• A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up

  2024cites this paper
• Instability of acylcarnitine and amino acids in dried blood spots preserved at various temperatures: the impact on retrospective analysis of inborn errors of metabolism biomarkers

  2024cites this paper
• Odimet®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism—An Assessment of Its Effectiveness during the COVID Pandemic

  2024cites this paper
• Etiology and Treatment of Glutaric Aciduria Type I

  2024cites this paper
• Entwicklung der Analytik im Neugeborenen-Screening – Von der Guthrie-Karte zur Genetik

  2023cites this paper
• Quantitation of Phenylalanine and Tyrosine from Dried Blood/Plasma Spots with Impregnated Stable Isotope Internal Standards (SIIS) by FIA-SRM.

  2023cites this paper
• Spatiotemporally quantitative in vivo imaging of mitochondrial fatty acid β-oxidation at cellular-level resolution in mice.

  2023cites this paper
• Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong

  2023cites this paper
• Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968–2023)

  2023cites this paper
• A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone

  2023cites this paper
• Dried Blood Spots in Neonatal Studies: A Computational Analysis for the Role of the Hematocrit Effect

  2023cites this paper
• Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations

  2023cites this paper
• Multivariate Independent Component Analysis Identifies Patients in Newborn Screening Equally to Adjusted Reference Ranges

  2023cites this paper
• Comparison of Tandem Mass Spectrometry and the Fluorometric Method—Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phenylketonuria

  2023cites this paper
• High-Throughput Analysis of Underivatized Amino Acids and Acylcarnitines in Infant Serum: A Micromethod Based on Stable Isotope Dilution Targeted HILIC-ESI-MS/MS.

  2023cites this paper
• The glycine N-acyltransferases, GLYAT and GLYATL1, contribute to the detoxification of isovaleryl-CoA - an in-silico and in vitro validation

  2023cites this paper
• Free amino acid and acylcarnitine values in Ursus americanus Pallas 1780 (black bear) from Northeastern Mexico

  2023cites this paper
• An early prediction model for gestational diabetes mellitus based on metabolomic biomarkers

  2023cites this paper
• The role of prognostic biomarkers and their implications in early detection of preeclampsia: A systematic review

  2023cites this paper
• An update on multiplexed mass spectrometry-based lysosomal storage disease diagnosis.

  2023cites this paper
• Status of carnitine and circulating amino acids and its association with pre-frailty, sarcopenia and diet in an Uruguayan older population

  2023cites this paper
• How guideline development has informed clinical research for organic acidurias (et vice versa)

  2023cites this paper
• Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots

  2023cites this paper
• An automated workflow on data processing (AutoDP) for semiquantitative analysis of urine organic acids with GC-MS to facilitate diagnosis of inborn errors of metabolism.

  2023cites this paper
• Neonatal Screening

  2022cites this paper
• Glutaric acidemia type 1 (clinical cases)

  2022cites this paper
• Carbon fiber paper spray ionization mass spectrometry.

  2022cites this paper
• Dried blood spot as an alternative sample for screening of fatty acids, amino acids, and keto acids metabolism in humans.

  2022cites this paper
• Dried blood spots in clinical lipidomics: optimization and recent findings

  2022cites this paper
• Newborn Screening: From the Past to the Future

  2022cites this paper
• Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital

  2022cites this paper
• Histopathological Diagnosis of Nonalcoholic Steatohepatitis (NASH).

  2022cites this paper
• Separation of Serum and Plasma Proteins for In-Depth Proteomic Analysis

  2022cites this paper
• Combined genetic screening and traditional biochemical screening to optimize newborn screening systems.

  2022cites this paper
• Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

  2022cites this paper
• Establishment and Validation of Reference Values for Amino Acids and Acylcarnitines in Dried Blood Spots for Omani Newborns Using Tandem Mass Spectrometry

  2022cites this paper
• Method modification to reduce false positives for newborn screening of guanidinoacetate methyltransferase deficiency.

  2022cites this paper
• Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy

  2022cites this paper
• Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

  2022cites this paper
• The Evolution of Proteomics from 2010 to 2020

  2022cites this paper
• A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease

  2022cites this paper
• Comprehensive Determination of Amino Acids for Diagnosis of Inborn Errors of Metabolism.

  2022cites this paper
• Tandem Mass Spectrometry for the Analysis of Plasma/Serum Acylcarnitines for the Diagnosis of Certain Organic Acidurias and Fatty Acid Oxidation Disorders.

  2022cites this paper
• Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns

  2022cites this paper
• Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population

  2022cites this paper
• Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches

  2022cites this paper
• Towards Achieving Equity and Innovation in Newborn Screening across Europe

  2022cites this paper
• Lignin as a MALDI matrix for small molecules: a proof of concept.

  2021cites this paper
• Combining First and Second-Tier Newborn Screening in a Single Assay Using High-Throughput Chip-Based Capillary Electrophoresis Coupled to High-Resolution Mass Spectrometry.

  2021cites this paper
• Integrative metabolomics‐genomics approach reveals key metabolic pathways and regulators of Alzheimer's disease

  2021cites this paper
• Applications of quantitative metabolomics to revolutionize early diagnosis of inborn errors of metabolism in India

  2021cites this paper
• Acylcarnitine profile in Alaskan sled dogs during submaximal multiday exercise points out metabolic flexibility and liver role in energy metabolism

  2021cites this paper
• A Workflow to Perform Targeted Metabolomics at the Untargeted Scale on a Triple Quadrupole Mass Spectrometer

  2021cites this paper
• Analysis of 2-methylcitric acid, methylmalonic acid, and total homocysteine in dried blood spots by LC-MS/MS for application in the newborn screening laboratory: A dual derivatization approach

  2021cites this paper
• The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

  2021cites this paper
• Mass Spectrometry in Clinical Laboratories

  2021cites this paper
• Österreichisches Neugeborenen-Screening – Früherkennung von Vitamin-B12-Mangel im Fokus

  2021cites this paper
• Effects of Reducing L-Carnitine Supplementation on Carnitine Kinetics and Cardiac Function in Hemodialysis Patients: A Multicenter, Single-Blind, Placebo-Controlled, Randomized Clinical Trial

  2021cites this paper
• Scientific Citizenship’s Youngest Domain: Function Creep in Norway’s Newborn Screening Programme

  2021cites this paper
• Neonatal Urine Screening Program in the Province of Quebec: Technological Upgrade from Thin Layer Chromatography to Tandem Mass Spectrometry

  2021cites this paper
• Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency: Are predictions possible?

  2021influential citation
• Genetic regulatory element based whole-cell biosensors for the detection of metabolic disorders.

  2021cites this paper
• Metabolome‐Genome‐Wide Association Study (mGWAS) Reveals Novel Metabolites Associated with Future Type 2 Diabetes Risk and Susceptibility Loci in a Case‐Control Study in a Chinese Prospective Cohort

  2021cites this paper
• Amino Acid and Acylcarnitine Levels in Chronic Patients with Schizophrenia: A Preliminary Study

  2021cites this paper
• Metabolomics facilitate the personalized management in inflammatory bowel disease

  2021cites this paper
• Mind the Quality Gap When Banking on Dry Blood Spots

  2021cites this paper
• Alternative and promising targets of biochemical analysis in sport (review of literature).

  2021cites this paper
• A narrative review of metabolomics in the era of “-omics”: integration into clinical practice for inborn errors of metabolism

  2021cites this paper
• Novel LC-MS tools for diagnosing inborn errors of metabolism

  2021cites this paper
• Glutaric Acidemia Type 1: An Inherited Neurometabolic Disorder of Intoxication

  2021cites this paper
• Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.

  2021cites this paper