(Q40379227)

20 September 2017

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title

The management and outcome of propionic and methylmalonic acidaemia (English)

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20 September 2017

J V Leonard

1

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20 September 2017

publication date

1 January 1995

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Journal of Inherited Metabolic Disease

20 September 2017

published in

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20 September 2017

volume

18

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20 September 2017

issue

4

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20 September 2017

page(s)

430-434

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https://scigraph.springernature.com/pub.10.1007/bf00710054

20 September 2017

exact match

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cites work

Acute extrapyramidal syndrome in methylmalonic acidemia: “Metabolic stroke” involving the globus pallidus

1 reference

12 December 2020

Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes

1 reference

12 December 2020

Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia

1 reference

12 December 2020

The use of neomycin in the treatment of methylmalonic aciduria

1 reference

12 December 2020

Cardiomyopathy in propionic acidaemia

1 reference

12 December 2020

Cardiomyopathy in propionic acidaemia

1 reference

12 December 2020

Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit

1 reference

12 December 2020

Neurologic outcome of propionic acidemia

1 reference

12 December 2020

Structure of the human methylmalonyl-CoA mutase (MUT) locus

1 reference

12 December 2020

A case of fulminant ecthyma gangrenosum associated with Pseudomonas aeruginosa infection in a patient with methylmalonic acidemia

1 reference

12 December 2020

Acrodermatitis enteropathica-like cutaneous lesions in organic aciduria

1 reference

12 December 2020

L-carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia

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12 December 2020

Correction of methylmalonyl-CoA mutase deficiency in Mut0 fibroblasts and constitution of gene expression in primary human hepatocytes by retroviral-mediated gene transfer

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12 December 2020

Renal tubular dysfunction in methylmalonic acidaemia

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12 December 2020

New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency

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12 December 2020

Accumulation of odd-numbered long-chain fatty acids in fetuses and neonates with inherited disorders of propionate metabolism

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12 December 2020

Sources of propionate in inborn errors of propionate metabolism

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12 December 2020

Contribution of odd-chain fatty acid oxidation to propionate production in disorders of propionate metabolism.

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12 December 2020

The use of metronidazole in management of methylmalonic and propionic acidaemias

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12 December 2020

Chronic renal failure in methylmalonic acidaemia

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12 December 2020

Pancreatitis in patients with organic acidemias

1 reference

12 December 2020

Contribution of aminoacid catabolism to propionate production in methylmalonic acidaemia

1 reference

12 December 2020

Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism

1 reference

12 December 2020

The investigation of inborn errors in vivo using stable isotopes

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12 December 2020

Identifiers

DOI

10.1007/BF00710054

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Dimensions Publication ID

20 September 2017

1013275171

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Fatcat ID

release_eo4loa6d5zcktik4uib6frdgpi

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Fatcat

https://api.fatcat.wiki/v0/release/eo4loa6d5zcktik4uib6frdgpi

24 November 2022

mapped directly with Wikidata item

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