(Q36061628)

11 August 2017

Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair (English)

1 reference

11 August 2017

1 reference

Pollitt RJ

1

1 reference

11 August 2017

Jenner FA

series ordinal

2

1 reference

11 August 2017

Davies M

series ordinal

3

1 reference

11 August 2017

language of work or name

English

0 references

publication date

1 April 1968

1 reference

Archives of Disease in Childhood

11 August 2017

1 reference

11 August 2017

43

1 reference

11 August 2017

228

1 reference

11 August 2017

211-216

1 reference

A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019837

Argininosuccinic Aciduria: An Inborn Error of Amino Acid Metabolism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019837

2 October 2017

Tissue sulfhydryl groups

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019837

The Chemistry of Keratins

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019837

A SEX-LINKED DISORDER WITH MENTAL AND PHYSICAL RETARDATION CHARACTERIZED BY CEREBROCORTICAL ATROPHY AND INCREASE OF GLUTAMIC ACID IN THE CEREBROSPINAL FLUID.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019837

Argininosuccinic aciduria: identification and reactions of the abnormal metabolite in a newly described form of mental disease, with some preliminary metabolic studies

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019837

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019837

Kinky hair disease. II. Biochemical studies

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019837

Kinky hair disease. I. Clinical and pathological features

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019837

The dietary-regulated biosynthesis of high-sulphur wool proteins

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019837

Sex-linked neurodegenerative disease associated with monilethrix

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019837

A comparative study of high-sulphur proteins from α-keratins

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019837

23 September 2018

Arginosuccine aciduria

1 reference

12 December 2020

Trichorrhexis nodosa. Clinical and investigative studies

1 reference

12 December 2020

Separation and Properties of Argininosuccinate and Its Two Anhydrides and Their Detection in Biological Materials*

1 reference

12 December 2020

Aminogenic alopecia. Loss of hair associated with argininosuccinic aciduria

1 reference

12 December 2020

[A MULTIDIMENSIONAL TECHNIC FOR THE CHROMATOGRAPHIC IDENTIFICATION OF AMINO ACID]

1 reference

12 December 2020

COPPER DEFICIENCY IN INFANCY

1 reference

12 December 2020

Studies of tocopherol deficiency in infants and children. I. Hemolysis of erythrocytes in hydrogen peroxide

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.43.228.211

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

5645693

1 reference