(Q34540514)

2 August 2017

title

Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland (English)

1 reference

2 August 2017

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

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1136/ADC.37.195.505

4 January 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14018926

4 January 2024

CARSON NA

1 reference

2 August 2017

NEILL DW

series ordinal

1 reference

2 August 2017

N. A. CARSON

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14018926

4 January 2024

D. W. NEILL

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14018926

4 January 2024

language of work or name

English

0 references

publication date

1 October 1962

1 reference

full work available at URL

2 August 2017

https://adc.bmj.com/content/archdischild/37/195/505.full.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14018926

https://europepmc.org/articles/PMC2012909

4 January 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14018926

https://europepmc.org/articles/PMC2012909?pdf=render

4 January 2024

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%3A14018926

https://syndication.highwire.org/content/doi/10.1136/adc.37.195.505

4 January 2024

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1136/ADC.37.195.505

Archives of Disease in Childhood

4 January 2024

published in

1 reference

2 August 2017

1 reference

2 August 2017

page(s)

505-513

1 reference

A Rare Disease in Two Brothers

2 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=2012909

OCCURRENCE OF URINARY ACID MUCOPOLYSACCHARIDES IN THE HURLER SYNDROME.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2012909

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2012909

The nature of the defect in tyrosine metabolism in alcaptonuria

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2012909

A case of congenital cirrhosis of the liver with renal tubular defects akin to those in the Fanconi syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2012909

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2012909

Congenital galactosemia, a single enzymatic block in galactose metabolism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2012909

Some disturbances of erythrocyte metabolism in galactosaemia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2012909

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2012909

Phenylpyruvic oligophrenia (phenylketonuria).

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2012909

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2012909

The metabolic disorder in Hartnup disease

9 December 2018

1 reference

12 December 2020

Maple syrup urine disease

1 reference

12 December 2020

Indicanuria in phenylketonuria

1 reference

12 December 2020

The nature of the renal lesion in the Fanconi syndrome

1 reference

12 December 2020

An apparatus for the simultaneous production of many two-dimensional paper chromatograms

1 reference

12 December 2020

1 reference

12 December 2020

Phenylpyruvic oligophrenia

1 reference

12 December 2020

A familial disturbance of histidine metabolism

1 reference

12 December 2020

[Urinary excretion of histidine during normal menstrual cycle]

1 reference

12 December 2020

[Differentiation of proteins & acid mucopolysaccharide on paper by means of combined specific staining]

1 reference

12 December 2020

Mechanisms of aminoaciduria

1 reference

https://api.crossref.org/works/10.1136/ADC.37.195.505

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

4 January 2024

1 reference

https://api.crossref.org/works/10.1136/ADC.37.195.505

Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität

4 January 2024

1 reference

https://api.crossref.org/works/10.1136/ADC.37.195.505

Über einen Typ multipler Abartungen, vorwiegend am Skelettsystem

4 January 2024

1 reference

https://api.crossref.org/works/10.1136/ADC.37.195.505

[Aminoacidemia and aminoacidura during the menstrual cycle in the normal woman]

4 January 2024

1 reference

https://api.crossref.org/works/10.1136/ADC.37.195.505

4 January 2024

Identifiers

DOI

1 reference

2 August 2017

1 reference

2 August 2017

1 reference