HOMOCYSTINURIA: A NEW INBORN ERROR OF METABOLISM ASSOCIATED WITH MENTAL DEFICIENCY. (Q42162413)

17 October 2017

HOMOCYSTINURIA: A NEW INBORN ERROR OF METABOLISM ASSOCIATED WITH MENTAL DEFICIENCY. (English)

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17 October 2017

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CARSON NA

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17 October 2017

CUSWORTH DC

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17 October 2017

DENT CE

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17 October 2017

FIELD CM

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17 October 2017

NEILL DW

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17 October 2017

WESTALL RG

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17 October 2017

language of work or name

English

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publication date

1 October 1963

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Archives of Disease in Childhood

17 October 2017

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17 October 2017

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17 October 2017

425-436

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Displacement chromatography on synthetic ion-exchange resins. 3. Fractionation of a protein hydrolysate

17 October 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019092

A study of the behaviour of some sixty amino-acids and other ninhydrin-reacting substances on phenol-;collidine' filter-paper chromatograms, with notes as to the occurrence of some of them in biological fluids

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019092

Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019092

Aminoacid metabolism in cystinuria

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019092

The amino acids and other ampholytes of urine. 3. Unidentified substances excreted in normal human urine

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019092

Metabolic Abnormalities Detected in a Survey of Mentally Backward Individuals in Northern Ireland

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019092

Renal clearances of amino acids in normal adults and in patients with aminoaciduria

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019092

Studies in maple syrup urine disease

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1 reference

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Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features

26 October 2017

1 reference

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Glutathione-homocystine transhydrogenase

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019092

Chromatographic determination of cystine as cysteic acid

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019092

The pathogenesis of cystinuria. II. Polarographic studies of the metabolism of sulfur-containing amino-acids

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019092

Familial Hyperprolinemia, Cerebral Dysfunction and Renal Anomalies Occurring in a Family with Hereditary Nephropathy and Deafness

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019092

A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019092

Maple syrup urine disease: branched-chain keto-aciduria

17 August 2018

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12 December 2020

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

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12 December 2020

Studies on the treatment of cystinuria

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12 December 2020

The reversible binding of half-cystine residues to serum protein, and its bearing on the cystine requirement of cultured mammalian cells

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12 December 2020

Isolation of amino acids by chromatography on ion exchange columns; use of volatile buffers

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12 December 2020

Amino acid composition of human milk

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12 December 2020

The serum leucine aminopeptidase test: an appraisal of its value in diagnosis of carcinoma of pancreas

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12 December 2020

The free amino acids of human blood plasma

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12 December 2020

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12 December 2020

Serum isocitric dehydrogenase activity with particular reference to liver disease

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12 December 2020

A familial disturbance of histidine metabolism

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12 December 2020

Histidinemia. A deficiency in histidase resulting in the urinary excretion of histidine and of imidazolepyruvic acid

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12 December 2020

[Lowe syndrome, study of tubular function]

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12 December 2020

Identifiers

DOI

10.1136/ADC.38.201.425

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release_riczr63lw5ah3phcxd7fckhbai

17 October 2017

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Fatcat

https://api.fatcat.wiki/v0/release/riczr63lw5ah3phcxd7fckhbai

24 November 2022

mapped directly with Wikidata item

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17 October 2017

PubMed publication ID

14065982

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