(Q68890183)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3525594%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

review article

1 reference

title

Metabolic profiling with gas chromatography-mass spectrometry and its application to clinical medicine (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3525594%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

0 references

T Niwa

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3525594%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

publication date

1 June 1986

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3525594%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

volume

379

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3525594%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

page(s)

313-345

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Profiles in altered metabolism. I—The organic acids accumulating in acute non-diabetic ketoacidosis associated with alcoholism

28 September 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

The identification of 3-keto-2-methylvaleric acid and 3-hydroxy-2-methylvaleric acid in a patient with propionic acidemia

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Increased excretion of lactate, glutarate, 3-hydroxyisovalerate and 3-methylglutaconate during clinical episodes of propionic acidemia

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Gas chromatographic and mass spectrometric studies on urinary organic acids in a patient with congenital lactic acidosis due to pyruvate decarboxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Urinary organic acid profiles of Reye's syndrome patients

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Isolation, identification and quantitation of urinary organic acids

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Quantitative metabolic profiling of urinary organic acids by gas chromatography-mass spectrometry. Comparison of isolation methods

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Rapid and simplified extraction procedure for gas chromatographic--mass spectrometric profiling of urinary organic acids

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Hydroxy acid metabolites of branched-chain amino acids in amniotic fluid

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

High resolution gas chromatography mass spectrometry of the methyl esters of organic acids from uremic hemofiltrates

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Twin siblings with a Reye's-like syndrome associated with an abnormal organic aciduria, hypoglycemia, diarrhea, and vomiting with close similarities to Jamaican vomiting sickness

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Formation of n-hexanedioic acid from hexadecanoic acid by an initial oxidation in ketotic rats

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

3,4-Methylene hexanedioic acid--a previously unknown compound in human urine

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Gas chromatographic and gas chromatographic-mass spectrometric analysis of organic acids in plasma of patients with chronic renal failure

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

New polar acid metabolites in human urine

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Volatile fatty acids in normal human physiological fluids

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

A rapid method for the quantitative analysis of shorthain fatty acids in serum or plasma

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Plasma short-chain fatty acids in fulminant hepatic failure

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Pretreatment methods prior to gaschromatographic analysis of volatile fatty acids from faecal samples

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Determination of acetate in biological material by vacuum microdistillation and gas chromatography

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Volatile fatty acids in human peripheral and portal blood: Quantitative determination by vacuum distillation and gas chromatography

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Quantitative determination of C2-C8 volatile fatty acids in human serum by vacuum distillation and gas chromatography

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Short chain fatty acids in plasma and brain: Quantitative determination by gas chromatography

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Glutaric aciduria type II: Report on a previously undescribed metabolic disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Volatile carboxylic acid profiling in physiological fluids

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Volatile carboxylic acid profiling in physiological fluids: direct injection into a gas chromatograph/mass spectrometer

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Concentration and Analysis of Volatile Urinary Metabolites

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Profile of volatile metabolites in urine by gas chromatography-mass spectrometry.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Gas chromatographic-mass spectrometric study of volatile organic metabolites in urines of patients with diabetes mellitus

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Application of pattern recognition and feature extraction techniques to volatile constituent metabolic profiles obtained by capillary gas chromatography

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Structural relationships between the endogenous volatile urinary metabolites of experimentally diabetic rats and certain neurotoxins (l)

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Excretion of urinary volatile metabolites in response to alloxan induced diabetes of short duration in rats

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Gas chromatographic--mass spectrometric determination of total 4-heptanone, a new marker in diabetes mellitus

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Analysis of trace volatile metabolites in serum and plasma

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Halogenated Hydrocarbons in New Orleans Drinking Water and Blood Plasma

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Volatile substances in blood serum: profile analysis and quantitative determination

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Gas Chromatographic Evaluation of the Volatile Constituents of Lung, Brain and Liver Tissues

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Volatile environmental pollutants in biological matrices with a headspace purge technique

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Rapid quantitative microanalysis of ketones in urine by gas chromatography-mass fragmentography

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Profiles of volatile metabolities in body fluids

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

A micro method for the determination of volatile metabolites in biological samples

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Column elution and concentration of volatile compounds in biological fluids

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Capillary column gas chromatographic profile analysis of volatile compounds in sera of normal and virus-infected patients

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Volatile metabolites in sera of normal and diabetic patients

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Profiles of organic volatiles in biological fluids as an aid to the diagnosis of disease

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

A gas chromatographic—mass spectrometric study of profiles of volatile metabolites in hepatic encephalopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

The serum polyol pattern and the urinary polyol excretion in diabetic and in uremic patients

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Occurrence of I,5-anhydroglucitol in human cerebrospinal fluid

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Serum 1,5-anhydroglucitol in normal subjects and in patients with insulin-dependent diabetes mellitus

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Polyols in the cerebrospinal fluid and plasma of neurological, diabetic and uraemic patients

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Profiling of uremic serum by high-resolution gas chromatography—electron-impact, chemical ionization mass spectrometry

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Profiles of strongly polar and less polar acids obtained from human blood, plasma and serum by two-step ultrafiltration

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Identification of long chain dicarboxylic acids in the serum of two patients with Reye's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Changes of organic acids in rat heart muscle under ischemic-like conditions

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Analysis of organic acids in the hearts of patients with idiopathic cardiomyopathy by gas chromatography-mass spectrometry

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Ischemic change of organic acids in kidney

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Organic acid profiles of human tissue biopsies by capillary gas chromatography-mass spectrometry

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Gas chromatography-mass spectrometry of saturated and unsaturated dicarboxylic acids in urine

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Identification and quantitation of urinary dicarboxylic acids as their dicyclohexyl esters in disease states by gas chromatography mass spectrometry

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Quantitation of 2-ketoacids in biological fluids by gas chromatography chemical ionization mass spectrometry ofO-trimethylsily-quinoxalinol derivatives

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Quantitative gas chromatography—chemical ionization mass spectrometry of 2-ketoglutarate from urine as its O-trimethylsilyl-quinoxalinol derivative

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Microdetermination of 2-ketoglutaric acid in plasma and cerebrospinal fluid by capillary gas chromatography mass spectrometry; application to pediatrics

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Quantitative profiling analysis of organic acids in complex mixtures

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Application of a gas chromatography mass spectrometry computer system for clinical diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Screening for organic acidurias and amino acidopathies in newborns and children

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Profiling of human body fluids in healthy and diseased states using gas chromatography and mass spectrometry, with special reference to organic acids

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

The syndrome of systemic carnitine deficiency: Clinical, morphologic, biochemical, and pathophysiologic features

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

New defect in fatty-acid metabolism with hypoglycemia and organic aciduria

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Ethylmalonic-adipic aciduria. In vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Fumaric aciduria: a new organic aciduria, associated with mental retardation and speech impairment.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Glutaric aciduria; A “new” disorder of amino acid metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Glutaric aciduria; presence of glutaconic and beta-hydroxyglutaric acids in urine

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

D-Glyceric acidemia in a patient with chronic metabolic acidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

L-glyceric aciduria. A new genetic variant of primary hyperoxaluria

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Familial hyperglycerolemia

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

A new patient with 4-hydroxybutyric aciduria, a possible defect of 4-aminobutyrate metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

3-Methylcrotonylglycine excretion in 3-hydroxy-3-methylglutaric aciduria

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: facts and artefacts

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Para-hydroxyphenylacetic and Homovanillic Acid Excretion: Variation during Growth and in Cystic Fibrosis and Other Pulmonary Diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Isovaleric acidemia: a new genetic defect of leucine metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Identification of β-hydroxyisovaleric acid in the urine of a patient with isovaleric acidemia

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Microdetermination of methylmalonic acid and other short chain dicarboxylic acids by gas chromatography: Use in prenatal diagnosis of methylmalonic acidemia and in studies of isovaleric acidemia

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

New metabolites in isovaleric acidemia

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

3-Hydroxyisoheptanoic acid: a new metabolite in isovaleric acidemia

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Excretion of N-isovalerylglutamic acid in isovaleric acidemia

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Isovalerylglucuronide, a new urinary metabolite in isovaleric acidemia. Identification problems due to rearrangement reactions

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

N-Isovalerylalanine and N-isovalerylsarcosine: two new minor metabolites in isovaleric acidemia

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Jamaican vomiting sickness. Biochemical investigation of two cases

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Jamaican vomiting sickness: a study of two adult cases

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Alpha-ketoadipic aciduria: a description of a new metabolic error in lysine-tryptophan degradation

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Defect in alpha-ketobutyrate metabolism: a new inborn error

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

A defect in l-isoleucine metabolism associated with alpha-methyl-beta-hydroxybutyric and alpha-methylacetoacetic aciduria: quantitative in vivo and in vitro studies.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Lactate homeostasis and lactic acidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Aliphatic C 6 -C 14 dicarboxylic acids in urine from an infant with fatal congenital lactic acidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Clinical conditions associated with urinary excretion of 2-hydroxybutyric acid

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Absence of pyruvate decarboxylase activity in man: a cause of congenital lactic acidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Pyruvate Carboxylase Deficiency and Lactic Acidosis in a Retarded Child without Leigh's Disease

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Origin of the two peaks for 2-keto-3-methylvaleric acid produced by the oximation of the keto acids occurring in maple syrup urine disase

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Methylmalonic/β-hydroxy-n-valeric aciduria due to methylmalonyl-Coa mutase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Deranged isoleucine metabolism during ketotic attacks in patients with methylmalonic acidaemia

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

3-methylglutaconic aciduria: report on a sibship with infantile progressive encephalopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

3-Methylglutaconic aciduria in two infants

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Organic aciduria in neonatal multiple carboxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Dicarboxylic aciduria: The response to fasting

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Non-ketotic C6-C10-dicarboxylic aciduria: biochemical investigations of two cases

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Episodic hypoglycemia with psi-hydroxy fatty acid excretion

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Hyperammonaemia. A new instance of an inborn enzymatic defect of the biosynthesis of urea

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Stable isotope dilution analysis of orotic acid and uracil in amniotic fluid

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Gas chromatography of urinary N-phenylacetylglutamine

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Identification and quantitation of phenylethylene glycol in human and rat urine, and its elevation in phenylketonuria

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

PRIMARY HYPEROXALURIA

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with beta-ketothiolase deficiency, propionic acidaemia and methylmalonic acidaemia

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

2-hydroxy-2-methylsuccinic acid--a urinary metabolite in propionyl-CoA carboxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

The occurrence of substituted 3-methyl-3-hydroxyglutaric acids in urine in propionic acidaemia and in β-ketothiolase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Idiopathic hyperglycinemia: isolation and identification of three previously undescribed urinary ketones

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Pyroglutamic aciduria--a new inborn error of metabolism.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Metabolism of phytanic acid in Refsum's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

3-Methyladipate excretion in Refsum's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

On the enzymic defects in hereditary tyrosinemia

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Identification of 4,6-dioxoheptanoic acid (succinylacetone), 3,5-dioxooctanedioic acid (succinylacetoacetate) and 4-Oxo-6-hydroxyheptanoic acid in the urine from patients with hereditary tyrosinemia

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Rapid computerized identification of compounds in complex biological mixtures by gas chromatography-mass spectrometry

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Screening of organic acids in urine by chemical ionization mass spectrometry

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

High resolution gas chromatographic/real-time high resolution mass spectrometric identification of organic acids in human urine

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Use of new silylating agents for identification of hydroxylated steroids by gas chromatography and gas chromatography mass spectrometry

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Mass spectrometric determination of unresolved components in gas chromatographic effluents

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Chromatographic profile of high boiling point organic acids in human urine

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Calcium levulinate medication. A pitfall in the diagnosis of organic acidurias.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Identification of urinary 3-ethoxy-4-hydroxybenzoic and 3-ethoxy-4-hydroxymandelic acids after dietary intake of ethyl vanillin

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

(2-Ethoxyethoxy)acetic acid: an unusual compound found in the gas chromatographic analysis of urinary organic acids

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Benzoylalanine: detection and identification of an alanine conjugate with benzoic acid in hyperammonemic patients treated with sodium benzoate

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

3-methyl-3-butenoic acid: an artefact in the urinary metabolic pattern of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

The occurrence of lactyl lactate and succinyl lactate in the urine of patients screened for inherited metabolic disease

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

A gas chromatographic-mass spectrometric assay for nine hydroxyphenolic acids in uremic serum

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Pattern of aliphatic dicarboxylic acids in uremic serum including a new organic acid, 2,4-dimethyladipic acid

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Profiling of uremic ultrafiltrate using high resolution gas chromatography-mass spectrometry - identification of 6 polyphenols

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

A Gas Chromatographic Technique for the Analysis of Volatile Phenols in Serum

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

A gas chromatographic-mass spectrometric analysis for phenols in uremic serum

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Identification of 6-deoxyallitol and 6-deoxygulitol in human urine. Electron-impact mass spectra of eight isomers of 6-deoxyhexitol

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Amine metabolite profile of normal and uremic urine using gas chromatography--mass spectrometry

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Occurrence of highly oxygen-substituted androgens in hemofiltrates of uremic patients

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Specific detection of volatile metabolites in urines of normal subjects and patients with diabetes mellitus using computerized mass fragmentography

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Chromatographic profiling of urinary volatile and organic acid metabolites of normal and diabetic C57BL/Ks mice

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

The occurrence of adipic and suberic acid in urine from ketotic patients

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Urinary excretion of n-hexanedioic and n-octanedioic acid in juvenile diabetics with ketonuria.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Gas chromatographic-mass spectrometric profile of organic acids in urine and serum of diabetic ketotic patients

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Identification of 2-hydroxy-2-methyllevulinic acid in urine and serum of diabetic patients with ketoacidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

3-Hydroxyhexanoic acid: an abnormal metabolite in urine and serum of diabetic ketoacidotic patients

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Accumulation of 3-hydroxyisobutyric acid, 2-methyl-3-hydroxybutyric acid and 3-hydroxyisovaleric acid in ketoacidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

The occurrence of 2-hydroxyisovaleric acid in patients with lactic acidosis and ketoacidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Increased urinary excretion of 3-hydroxyisovaleric acid in patients with ketoacidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Urinary excretion of C6–C10 dicarboxylic acids in glycogen storage disease types I and III

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Identification of 5-hydroxyhexanoic acid in the urine of twin siblings with a Reye's-like syndrome associated with dicarboxylic aciduria and hypoglycaemia and with similarities to Jamaican vomiting sickness

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Identification of 5-Hydroxyhexanoic Acid in the Urine of Twin Siblings with a Syndrome having Close Similarities to Jamaican Vomiting Sickness

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Dicarboxylic Aciduria as an Indicator of Defective β-Oxidation in Twin Siblings with a Vomiting Sickness and Hypoglycaemia Similar to Jamaican Vomiting Sickness

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

The differential diagnosis of dicarboxylic aciduria.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

Profiles in altered metabolism. II--(omega -- 1)-hydroxyacid excretion in a case of episodic hypoglycemia

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2800%2980688-X

7 January 2021

10.1016/S0378-4347(00)80688-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3525594%20AND%20SRC:MED&resulttype=core&format=json

28 September 2019

1 reference