(Q34324738)

English

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

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11482733%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

Europe PubMed Central

Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography-mass spectrometry (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11482733%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

T Kuhara

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11482733%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

publication date

1 July 2001

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11482733%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Journal of Chromatography B: Biomedical Sciences and Applications

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11482733%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

758

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11482733%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11482733%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

3-25

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11482733%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Isovaleric acidemia: a new genetic defect of leucine metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

The quantitative extraction and gas-liquid chromatographic determination of organic acids in urine

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Automated screening of urine samples for carbohydrates, organic and amino acids after treatment with urease

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Studies on the urinary acidic metabolites from three patients with methylmalonic aciduria

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Creatine metabolism during metabolic perturbations in patients with organic acidurias

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Screening newborns for multiple organic acidurias in dried filter paper urine samples: method development

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Pilot study of gas chromatographic-mass spectrometric screening of newborn urine for inborn errors of metabolism after treatment with urease

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

A GC/MS/MS screening method for multiple organic acidemias from urine specimens

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Urinary acid profiles of asymptomatic propionyl CoA carboxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implications for management.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Absence of acidosis in the initial presentation of propionic acidaemia

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Neurologic nonmetabolic presentation of propionic acidemia

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Liver transplantation in two cases of propionic acidaemia

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Combined liver-kidney transplantation in methylmalonic acidemia

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Urinary Excretion of Purine and Pyrimidine Metabolites in the Neonate

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Treatment of ornithine transcarbamylase deficiency in girls by auxiliary liver transplantation: conceptual changes in a living-donor program

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Disorders of gluconeogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Fructose-1,6-diphosphatase deficiency: glycerol excretion during fasting test.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and biochemical observations on three cases of fructose-1,6-diphosphatase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Rapid, simplified and sensitive method for screening fructose-1,6-diphosphatase deficiency by analyzing urinary metabolites in urease/direct preparations and gas chromatography-mass spectrometry in the selected-ion monitoring mode

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Evidence for the beta-oxidation of orally administered 4-hydroxybutyrate in humans

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: evidence of alpha-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial beta-o

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Succinic semialdehyde dehydrogenase deficiency in siblings: clinical heterogeneity and response to early treatment

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Population and family studies of dihydropyrimidinuria: prevalence, inheritance mode, and risk of fluorouracil toxicity

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Dihydropyrimidinuria: the first case in Japan

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Comparative study of thymine and uracil metabolism in healthy persons and in a patient with dihydropyrimidine dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Automated determination of orotic acid, uracil and pseudouridine in urine by high-performance liquid chromatography with column switching

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

New defects of pyrimidine metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

The structure and properties of methylenetetrahydrofolate reductase from Escherichia coli suggest how folate ameliorates human hyperhomocysteinemia

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Methylenetetrahydrofolate reductase deficiency: importance of early diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Differential diagnosis of homocystinuria by urease treatment, isotope dilution and gas chromatography-mass spectrometry

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Simplified screening for organic acidemia using GC/MS and dried urine filter paper: a study on neonatal mass screening

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Living-related liver transplantation for neonatal-onset propionic acidemia.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-4347%2801%2900138-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0378-4347(01)00138-4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11482733%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11482733%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34324738&oldid=2039662413"