(Q40320371)

19 September 2017

1 reference

title

Propionic acidemia: a clinical update (English)

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19 September 2017

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Wolf B

1

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19 September 2017

Hsia YE

2

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19 September 2017

Sweetman L

3

1 reference

19 September 2017

Gravel R

4

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19 September 2017

Harris DJ

5

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19 September 2017

Nyhan WL

6

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19 September 2017

language of work or name

English

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publication date

1 December 1981

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The Journal of Pediatrics

19 September 2017

published in

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19 September 2017

volume

99

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19 September 2017

issue

6

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19 September 2017

page(s)

835-846

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Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia

19 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Propionicacidemia, a New Inborn Error of Metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Defective propionate carboxylation in ketotic hyperglycinaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Inherited propionyl-CoA carboxylase deficiency in “ketotic hyperglycinemia”

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Localisation of enzymic defect in propionicacidaemia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Newborn screening for metabolic disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Propionacidaemia and immunodeficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

The neuropathology of the nonketotic and ketotic hyperglycinemias: Three cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Propionic acidaemia presenting with pancytopaenia in infancy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Asymptomatic propionyl CoA carboxylase deficiency in a 13-year-old girl

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Propionic acidemia with severe hyperammonemia and defective glycine metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Inhibition of the Glycine Cleavage System by Branched-Chain Amino Acid Metabolites

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Correlation between serum propionate and blood ammonia concentrations in propionic acidemia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Hyperglycinemia and propionyl CoA carboxylase deficiency and episodic severe illness without consistent ketosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Biotin-responsive propionic acidemia presenting as the rumination syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Propionic acidemia: Diagnosis by enzyme assay in frozen leukocytes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Stimulation of Propionyl CoA and β-Methylcrotonyl CoA Carboxylase Activities in Human Leukocytes and Cultured Fibroblasts by Biotin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Prenatal diagnosis and family studies in a case of propionicacidaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Transient hyperammonemia of the preterm infant

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Colorimetric Method for Determination of Urinary Methylmalonic Acid

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Rapid thin-layer chromatographic method for the detection of urinary methylmalonic acid

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Biochemical characterization of mutant propionyl CoA carboxylases from two minor genetic complementation groups

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Heterozygote expression in propionyl coenzyme A carboxylase deficiency. Differences between major complementation groups

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Reassessment of biotin-responsiveness in "unresponsive" propionyl CoA carboxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Biotin-responsive propionicacidaemia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Biotin responsiveness in propionicacidaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Evaluation of biotin responsiveness in cultured fibroblasts from patients with propionic acidemia: Absence of response by structurally altered carboxylases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Biotin-responsive beta-methylcrotonylglycinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Beta-methylcrotonic aciduria associated with lactic acidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Biotin-responsive alopecia and developmental regression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Biotin-Responsive Carboxylase Deficiency Associated with Subnormal Plasma and Urinary Biotin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Treatment of a neonate with propionic acidaemia and severe hyperammonaemia by peritoneal dialysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Amino Acid Acylation: A Mechanism of Nitrogen Excretion in Inborn Errors of Urea Synthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Prenatal Diagnosis of Propionic Acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Pitfalls in the prenatal diagnosis of propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2881%2980004-2

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0022-3476(81)80004-2

1 reference

19 September 2017

1 reference