Methylmalonic acidemia: 6 years' clinical experience with two variants unresponsive to vitamin B12 therapy (Q33454695)

26 July 2017

Methylmalonic acidemia: 6 years' clinical experience with two variants unresponsive to vitamin B12 therapy (English)

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26 July 2017

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methylmalonic acidemia

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D. T. Whelan

1

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3 April 2022

E. Ryan

2

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3 April 2022

M. Spate

3

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3 April 2022

M. Morris

4

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3 April 2022

R. M. Hurley

5

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3 April 2022

R. Hill

6

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3 April 2022

language of work or name

English

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publication date

1 May 1979

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26 July 2017

19 May 1979

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National Center for Biotechnology Information

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full work available at URL

3 April 2022

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/36217/?tool=EBI

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https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/36217/pdf/?tool=EBI

3 April 2022

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Portable Document Format

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open access

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https://europepmc.org/articles/PMC1819187

3 April 2022

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https://europepmc.org/articles/PMC1819187?pdf=render

3 April 2022

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Portable Document Format

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Canadian Medical Association Journal

3 April 2022

published in

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26 July 2017

120

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26 July 2017

10

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26 July 2017

1230-1235

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RENAL TUBULAR MECHANISMS FOR EXCRETION OF ORGANIC ACIDS AND BASES.

26 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1819187

Tubular secretion of urate in man.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1819187

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

21 June 2018

1 reference

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Improved method for measuring vitamin B12 in serum using intrinsic factor, 57CoB12, and coated charcoal

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1819187

Propionic acidemia in patients with ketotic hyperglycinemia

21 June 2018

1 reference

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Abnormal patterns of urine and serum amino acids in methylmalonic acidemia

21 June 2018

1 reference

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

21 June 2018

1 reference

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Inherited defects of B12 metabolism

21 June 2018

1 reference

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Experience with a simplified method of radio-isotopic assay of serum vitamin B 12.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1819187

Response to dietary therapy in B 12 unresponsive methylmalonic acidemia

21 June 2018

1 reference

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Methylmalonyl coenzyme A racemase defect: another cause of methylmalonic aciduria.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1819187

Methylmalonic acidemia controlled with oral administration of vitamin B12

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1819187

Studies of Methylmalonyl Coenzyme A Carbonylmutase Activity in Methylmalonic Acidemia. I. Correlation of Clinical, Hepatic, and Fibroblast Data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1819187

Inherited deficiencies of human methylmalonyl CaA mutase activity: reduced affinity of mutant apoenzyme for adenosylcobalamin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1819187

Methylmalonic aciduria: A variant form of methylmalonyl coenzyme A apomutase deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1819187

Studies of methylmalonyl-coenzyme A carbonylmutase activity in methylmalonic acidemia. II. In vitro binding kinetics with adenosylcobalamin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1819187

Methylmalonic Aciduria without Vitamin B12Deficiency in an Adult Sibship

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1819187

RENAL RETENTION OF URIC ACID INDUCED BY INFUSION OF BETA-HYDROXYBUTYRATE AND ACETOACETATE

21 June 2018

1 reference

12 December 2020

[Methyl malonic acidemia with hyperuricemic nephropathy]

1 reference

12 December 2020

Methylmalonic Aciduria: Metabolic Block Localization and Vitamin B 12 Dependency

1 reference

12 December 2020

NMR Study of ganglion-blocking and curare-like dimethoniums conformation in aqueous solutions

1 reference

12 December 2020

The identification of urinary acids by coupled gas chromatography-mass spectrometry

1 reference

12 December 2020

Observations on the coexistence of methylmalonic acidemia and glycinemia

1 reference

12 December 2020

Methylmalonic aciduria and hypoglycemia

1 reference

12 December 2020

Studies in a patient with methylmalonic acidemia

1 reference

12 December 2020

Identifiers

PMCID

1819187

1 reference

26 July 2017

1 reference