Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients (Q72797441)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7957390%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7957390%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

author name string

W Lehnert

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7957390%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

W Sperl

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7957390%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

T Suormala

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7957390%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

E R Baumgartner

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7957390%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

publication date

1 January 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7957390%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Pediatrics

29 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7957390%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

volume

153

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7957390%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

issue

7 Suppl 1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7957390%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

page(s)

S68-80

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7957390%20AND%20SRC:MED&resulttype=core&format=json

Contribution of gut bacterial metabolism to human metabolic disease.

29 October 2019

cites work

1 reference

12 December 2020

[Propionic acidemia with myelination disorders of the CNS]

1 reference

12 December 2020

Isolation and Identification of Methylcitrate, a Major Metabolic Product of Propionate in Patients with Propionic Acidemia

1 reference

12 December 2020

Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I

1 reference

12 December 2020

Inhibition of glycine-serine interconversion in cultured human fibroblasts by products of isoleucine catabolism.

1 reference

12 December 2020

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

1 reference

12 December 2020

The variability of metabolite excretion in propionicacidaemia

1 reference

12 December 2020

Propionicacidemia, a New Inborn Error of Metabolism

1 reference

12 December 2020

Routine gas chromatographic/mass spectrometric analysis of urinary organic acids. Results over a three-year period

1 reference

12 December 2020

A clinical biochemist's view of the investigation of suspected inherited metabolic disease

1 reference

12 December 2020

The effect of intravenous L-carnitine on propionic acid excretion in acute propionic acidaemia

1 reference

12 December 2020

Direct identification of propionylcarnitine in propionic acidaemia: biochemical and clinical results of oral carnitine supplementation

1 reference

12 December 2020

Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts

1 reference

12 December 2020

Studies on the Effects of Saturated and Unsaturated Short-Chain Monocarboxylic Acids on the Energy Metabolism of Rat Liver Mitochondria

1 reference

12 December 2020

Treatment of congenital hyperammonemias

1 reference

12 December 2020

Effect of propionic acid on fatty acid oxidation and ureagenesis

1 reference

12 December 2020

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

12 December 2020

Massachusetts Metabolic Disorders Screening Program. II. Methylmalonic aciduria

1 reference

12 December 2020

Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome

1 reference

12 December 2020

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

1 reference

12 December 2020

3-Hydroxypropionate: Significance of β-Oxidation of Propionate in Patients with Propionic Acidemia and Methylmalonic Acidemia

1 reference

12 December 2020

Suppression of granulopoietic progenitor cell proliferation by metabolites of the branched-chain amino acids

1 reference

12 December 2020

Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine

1 reference

12 December 2020

Inhibition of Glycine Oxidation in Cultured Fibroblasts by Isoleucine

1 reference

12 December 2020

Stereochemistry of the methylcitric acids formed in the citrate synthase reaction with propionyl-CoA.

1 reference

12 December 2020

Propionyl-coenzyme A carboxylase of Mycobacterium smegmatis. An electron microscopic study

1 reference

12 December 2020

Localisation of enzymic defect in propionicacidaemia.

1 reference

12 December 2020

Propionic acidaemia: a neuropathological study of two patients presenting in infancy

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF02138781

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7957390%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference