(Q43101583)

13 November 2017

The relationship of genotype to cognitive outcome in galactosaemia (English)

1 reference

13 November 2017

Shield JP

1

1 reference

13 November 2017

Wadsworth EJ

2

1 reference

13 November 2017

MacDonald A

3

1 reference

13 November 2017

Stephenson A

4

1 reference

13 November 2017

Tyfield L

5

1 reference

13 November 2017

Holton JB

6

1 reference

13 November 2017

Marlow N

7

1 reference

13 November 2017

language of work or name

English

0 references

publication date

1 September 2000

1 reference

Archives of Disease in Childhood

13 November 2017

1 reference

13 November 2017

83

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13 November 2017

3

1 reference

13 November 2017

248-250

1 reference

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene

13 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718484

Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718484

Long-term outcome in 134 patients with galactosaemia

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718484

Galactosaemia: results of the British Paediatric Surveillance Unit Study, 1988-90.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718484

Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718484

Osteogenesis imperfecta, non-accidental injury, and temporary brittle bone disease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718484

Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718484

Long‐term prognosis in galactosaemia: Results of a survey of 350 cases

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718484

Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718484

Galactosaemia: relationship of IQ to biochemical control and genotype

15 August 2018

1 reference

12 December 2020

A mouse model of galactose-1-phosphate uridyl transferase deficiency

1 reference

12 December 2020

Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis

1 reference

12 December 2020

Transient kinetics of formation and reaction of the uridylyl-enzyme form of galactose-1-P uridylyltransferase and its Q168R-variant: insight into the molecular basis of galactosemia

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.83.3.248

1 reference

13 November 2017

1 reference

13 November 2017

1 reference