Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles

The Metabolic and Molecular Bases of Inherited Disease

1995 • 12,086 citations

A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS

1963 • 2,115 citations

Carnitine--metabolism and functions

1983 • 1,620 citations

Inborn Errors of Metabolism

2001 • 698 citations

Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

1990 • 552 citations

Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry

1993 • 370 citations

Rapid assay for amino acids in serum or urine by pre-column derivatization and reversed-phase liquid chromatography.

1982 • 368 citations

Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass Spectrometry

1995 • 334 citations

Urinary Excretion of l-Carnitine and Acylcarnitines by Patients with Disorders of Organic Acid Metabolism: Evidence for Secondary Insufficiency of l-Carnitine

1984 • 247 citations

Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry

1995 • 222 citations

Age-Correlated Modifications of Copper-Zinc Superoxide Dismutase and Glutathione-Related Enzyme Activities in Human Erythrocytes

1992 • 181 citations

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.

1993 • 172 citations

New developments in fatty acid oxidation

1993 • 170 citations

Medium Chain Acyl-CoA Dehydrogenase Deficiency in Pennsylvania: Neonatal Screening Shows High Incidence and Unexpected Mutation Frequencies

1995 • 167 citations

The analysis of diagnostic markers of genetic disorders in human blood and urine using tandem mass spectrometry with liquid secondary ion mass spectrometry

1991 • 141 citations

Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry

1996 • 140 citations

Autosomal recessive disorders among Arabs: an overview from Kuwait.

1994 • 110 citations

Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile

1995 • 105 citations

Fully automated liquid-chromatographic determination of amino acids.

1988 • 103 citations

Prenatal Diagnosis of Organic Acidemias Based on Amniotic Fluid Levels of Acylcarnitines

1996 • 60 citations

Neurometabolic Diseases at a National Referral Center: Five Years Experience at the King Faisal Specialist Hospital and Research Centre

1992 • 60 citations

Electrospray tandem mass spectrometry in the diagnosis of organic acidemias

1994 • 58 citations

Quantification of Free Carnitine, Individual Short- and Medium-Chain Acylcarnitines, and Total Carnitine in Plasma by High-Performance Liquid Chromatography

1993 • 52 citations

Quantification of carnitine and specific acylcarnitines by high-performance liquid chromatography: application to normal human urine and urine from patients with methylmalonic aciduria, isovaleric acidemia or medium-chain acyl-CoA dehydrogenase deficiency

1993 • 45 citations

Diet-related reference values for plasma amino acids in newborns measured by reversed-phase HPLC

1990 • 44 citations

The measurement of carnitine and acyl-carnitines: Application to the investigation of patients with suspected inherited disorders of mitochondrial fatty acid oxidation

1992 • 42 citations

An epidemiological/genetic study of mental subnormality in Assiut Governorate, Egypt

1994 • 35 citations

Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method

1993 • 32 citations

Carnitine Disorders

1995 • 31 citations

Identification of urinary acylcarnitines using gas chromatography—mass spectrometry: preliminary clinical applications

1992 • 26 citations

Inborn Errors of Metabolism of Acute Onset in Infancy

1990 • 24 citations

Automated Analysis for Free and Short-Chain Acylcarnitine in Plasma with a Centrifugal Analyzer

1992 • 23 citations

Metabolic disease of the neonate and young infant.

1993 • 16 citations

Isovaleric acidemia appearing as diabetic ketoacidosis

1996 • 14 citations

The early detection and management of inborn errors presenting acutely in the neonatal period

1985 • 14 citations

Solid-phase extraction technique for gas-chromatographic profiling of acylcarnitines

1993 • 13 citations

Incidence and features of galactosaemia in Saudi Arabs

1995 • 9 citations

Inherited metabolic disease in the newborn: approach to diagnosis and treatment.

1986 • 8 citations

Inherited Metabolic Disease in the Newborn: Approach to Diagnosis and Treatment

1986 • 8 citations

Genetic screening, testing and treatment: How far can we go?

1996 • 7 citations

Neonatal screening for inborn errors of metabolism: update.

1990 • 6 citations

Plasma Amino Acids During the First 24 Hours of Life: Feasibility of Early Diagnosis in the Newborn at Risk of Amino Acid Disorders

1989 • 3 citations