Methylmalonic acidaemia and nonketotic hyperglycinaemia. Clinical and biochemical aspects (Q34984992)

5 August 2017

title

Methylmalonic acidaemia and nonketotic hyperglycinaemia. Clinical and biochemical aspects (English)

1 reference

5 August 2017

L. Corbeel

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A236734

6 June 2022

K. Tada

2

1 reference

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6 June 2022

J. P. Colombo

3

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6 June 2022

R. Eeckels

4

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6 June 2022

E. Eggermont

5

1 reference

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6 June 2022

J. Jaeken

6

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6 June 2022

W. Den Tandt

7

1 reference

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6 June 2022

L. Harvengt

8

1 reference

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6 June 2022

J. Delhaye

9

1 reference

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6 June 2022

W. Deloecker

10

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6 June 2022

language of work or name

English

0 references

publication date

1 February 1975

1 reference

full work available at URL

5 August 2017

https://europepmc.org/articles/PMC1544395

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A236734

https://europepmc.org/articles/PMC1544395?pdf=render

6 June 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A236734

https://syndication.highwire.org/content/doi/10.1136/adc.50.2.103

6 June 2022

1 reference

https://api.crossref.org/works/10.1136/ADC.50.2.103

Archives of Disease in Childhood

6 June 2022

published in

1 reference

5 August 2017

volume

50

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5 August 2017

issue

2

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5 August 2017

page(s)

103-109

1 reference

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

5 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544395

Physiological significance of glycine cleavage system in human liver as revealed by the study of a case of hyperglycinemia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544395

Propionicacidemia, a New Inborn Error of Metabolism

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544395

Propionic acidemia in patients with ketotic hyperglycinemia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544395

Periodic attacks of lethargy in a baby with ammonia intoxication due to a congenital defect in ureogenesis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544395

Hyperglycinemia: A Defect in Glycine Cleavage Reaction

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544395

Isovaleric acidemia: a new genetic defect of leucine metabolism

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544395

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544395

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544395

Hyperglycinemia with ketosis due to a defect in isoleucine metabolism: a preliminary report.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544395

Synaptic biochemistry of amino acids

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544395

Localisation of enzymic defect in propionicacidaemia.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544395

Metabolism of Glycine in the Nonketotic Form of Hyperglycinemia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544395

The metabolism in vivo of glycine and serine in eight areas of the rat central nervous system

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544395

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544395

Studies on the urinary excretion of oxalate by normal subjects

9 December 2018

1 reference

12 December 2020

[IDIOPATHIC HYPERGLYCINEMIA (GLYCINOSIS).]

1 reference

12 December 2020

The measurement of ammonia in whole blood, erythrocytes, and plasma

1 reference

12 December 2020

A simple and rapid thin-layer chromatographic technique for the detection of methylmalonic acid in urine

1 reference

12 December 2020

Hyperglycinemia associated with hyperammonemia: in vitro glycine cleavage in liver

1 reference

12 December 2020

The Oxidation of Glycine and Propionic Acid in Propionic Acidemia with Ketotic Hyperglycinemia

1 reference

12 December 2020

Congenital hyperammonemia. Association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase

1 reference

12 December 2020

Nonketotic hyperglycinemia

1 reference

12 December 2020

Determination of volatile free fatty acids of human blood

1 reference

12 December 2020

Methylmalonic Aciduria: Metabolic Block Localization and Vitamin B 12 Dependency

1 reference

12 December 2020

Urea cycle enzymes in the developing human fetus

https://api.crossref.org/works/10.1136/ADC.50.2.103

8

1 reference

6 June 2022

Identifiers

DOI

10.1136/ADC.50.2.103

1 reference

5 August 2017

1 reference

5 August 2017

1 reference