(Q41737719)

8 October 2017

1 reference

title

The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry (English)

1 reference

8 October 2017

Petry KG

1

1 reference

PubMed ID

9540406

8 October 2017

Reichardt JK

series ordinal

2

1 reference

8 October 2017

1 March 1998

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8 October 2017

1 reference

8 October 2017

14

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8 October 2017

98-102

1 reference

8 October 2017

3

1 reference

Newborn screening for galactosemia and other galactose metabolic defects

8 October 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2897%2901379-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2897%2901379-6

7 January 2021

Genetic basis of galactosemia

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2897%2901379-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2897%2901379-6

7 January 2021

A prevalent mutation for galactosemia among black Americans.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2897%2901379-6

7 January 2021

Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2897%2901379-6

7 January 2021

Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2897%2901379-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2897%2901379-6

7 January 2021

On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2897%2901379-6

7 January 2021

Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2897%2901379-6

7 January 2021

Galactose Metabolism and Cell "Sociology"

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2897%2901379-6

7 January 2021

Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2897%2901379-6

7 January 2021

Characterization of a novel biochemical abnormality in galactosemia: deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytes

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2897%2901379-6

7 January 2021

Both GA2, GM2, and GD2 synthases and GM1b, GD1a, and GT1b synthases are single enzymes in Golgi vesicles from rat liver

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2897%2901379-6

7 January 2021

Myelination in the absence of galactocerebroside and sulfatide: normal structure with abnormal function and regional instability.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2897%2901379-6

7 January 2021

In vivo and in vitro expression of rat galactose-1-phosphate uridyltransferase (GALT) in the developing central and peripheral nervous system.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2897%2901379-6

7 January 2021

Expression of galactose-1-phosphate uridyltransferase in the anterior pituitary of rat during the estrous cycle

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2897%2901379-6

7 January 2021

Altered follicle stimulating hormone isoforms in female galactosaemia patients

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2897%2901379-6

7 January 2021

Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2897%2901379-6

7 January 2021

10.1016/S0168-9525(97)01379-6

Identifiers

DOI

1 reference

8 October 2017

1 reference

PubMed ID

9540406