(Q35111155)

6 August 2017

1 reference

title

Clinical features of galactokinase deficiency: a review of the literature (English)

1 reference

6 August 2017

Clinical features of galactokinase deficiency:A review of the literature (English)

1 reference

Crossref

https://api.crossref.org/works/10.1023/A:1022875629436

26 December 2023

main subject

galactokinase deficiency

1 reference

1 reference

https://api.crossref.org/works/10.1023/A:1022875629436

26 December 2023

1

A. M. Bosch

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12705493

26 December 2023

author name string

Wanders RJ

5

1 reference

6 August 2017

H. D. Bakker

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12705493

26 December 2023

A. H. van Gennip

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12705493

26 December 2023

J. V. van Kempen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12705493

26 December 2023

R. J A. Wanders

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12705493

26 December 2023

F. A. Wijburg

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12705493

26 December 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12705493

26 December 2023

publication date

1 December 2002

1 reference

full work available at URL

6 August 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1023%2FA%3A1022875629436

1 reference

Crossref

https://api.crossref.org/works/10.1023/A:1022875629436

https://onlinelibrary.wiley.com/doi/pdf/10.1023/A%3A1022875629436

26 December 2023

1 reference

Crossref

https://api.crossref.org/works/10.1023/A:1022875629436

Journal of Inherited Metabolic Disease

26 December 2023

published in

1 reference

6 August 2017

25

1 reference

6 August 2017

8

1 reference

6 August 2017

629-634

1 reference

https://scigraph.springernature.com/pub.10.1023/a:1022875629436

6 August 2017

0 references

cites work

Galactose metabolism in a patient with hereditary galactokinase deficiency

1 reference

12 December 2020

A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies)

1 reference

12 December 2020

[Galactokinase defect in a newborn infant]

1 reference

12 December 2020

Novel mutations in the GALK1 gene in patients with galactokinase deficiency

1 reference

12 December 2020

Galactokinase deficiency presenting as pseudotumor cerebri

1 reference

12 December 2020

Deficiency of erythrocyte galactokinase in a patient with galactose diabetes

1 reference

12 December 2020

Recurrent sepsis with deficiencies of C2 and galactokinase

1 reference

12 December 2020

Hereditary galactokinase deficiency

1 reference

12 December 2020

Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts

1 reference

12 December 2020

Galactokinase deficiency: a case report

1 reference

12 December 2020

Galactokinase deficiency as a cause of cataracts

1 reference

12 December 2020

A patient with hereditary galactokinase deficiency

1 reference

12 December 2020

A mouse model of galactose-induced cataracts

1 reference

12 December 2020

Clinical and biochemical findings in a child with hereditary galactokinase defect

1 reference

12 December 2020

Pseudotumor cerebri in galactosemia.

1 reference

12 December 2020

Detection of heterozygotes for galactokinase deficiency in a human population

1 reference

12 December 2020

Partial and transitory erythrocyte galactokinase deficiency in a newborn. Biochemical study

1 reference

12 December 2020

Galactokinase deficiency in twins: clinical and biochemical studies

1 reference

12 December 2020

Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency

1 reference

12 December 2020

Galactokinase deficiency and mental retardation

1 reference

12 December 2020

Proton magnetic resonance spectroscopy of brain metabolites in galactosemia.

1 reference

12 December 2020

Hypergalactosemia and galactosuria due to galactokinase deficiency in a newborn

1 reference

12 December 2020

Galactokinase Deficiency and Cataracts

1 reference

12 December 2020

Cataract due to galactokinase deficiency in a premature infant

1 reference

12 December 2020

Galactokinase deficiency in a newborn infant

1 reference

12 December 2020

Galactokinase deficiency: Clinical and biochemical findings in a new kindred

1 reference

12 December 2020

Cataracts, galactosuria and hypergalactosemia due to galactokinase deficiency in a child

1 reference

12 December 2020

Excretion of galactitol in the urine of heterozygotes of both forms of galactosemia

1 reference

12 December 2020

Uridine nucleotide sugars in erythrocytes of patients with galactokinase deficiency

1 reference

12 December 2020

Novel mutations in 13 probands with galactokinase deficiency.

1 reference

12 December 2020

Identifiers

1 reference

Dimensions Publication ID

6 August 2017

0 references

1 reference