(Q34231457)

31 July 2017

1 reference

title

Genetic basis of galactosemia (English)

1 reference

31 July 2017

0 references

1

J. K. Reichardt

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301925

10 September 2022

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=1301925

10 September 2022

publication date

1 January 1992

1 reference

31 July 2017

1 reference

31 July 2017

volume

1

1 reference

31 July 2017

issue

3

1 reference

31 July 2017

page(s)

190-196

1 reference

Conservation of short patches of amino acid sequence amongst proteins with a common function but evolutionarily distinct origins: implications for cloning genes and for structure-function analysis

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010303

Molecular studies on galactose 1 phosphate uridylyl transferase from normal and mutant subjects. An immunological approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010303

7 January 2021

Reversion from deficiency of galactose-1-phosphate uridylyltransferase (GALT) in an SV40-transformed human fibroblast line

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010303

7 January 2021

The CpG dinucleotide and human genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010303

7 January 2021

Defective galactosylation of proteins in cultured skin fibroblasts from galactosaemic patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010303

7 January 2021

Galactose-1-phosphate uridylyltransferase: identification of histidine-164 and histidine-166 as critical residues by site-directed mutagenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010303

7 January 2021

Correlation of ovarian function with galactose-1-phosphate uridyl transferase levels in galactosemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010303

7 January 2021

Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010303

7 January 2021

Galactose-1-phosphate uridyl transferase in density-fractionated erythrocytes. Studies of normal and mutant enzymes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010303

7 January 2021

Remodeling hexose-1-phosphate uridylyltransferase: mechanism-inspired mutation into a new enzyme, UDP-hexose synthase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010303

7 January 2021

Erythrocytic uridine diphosphate galactose in galactosaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010303

7 January 2021

Newborn screening for galactosemia and other galactose metabolic defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010303

7 January 2021

Interallelic Complementation in Hybrid Cells Derived from Human Diploid Strains Deficient in Galactose-1-Phosphate Uridyl Transferase Activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010303

7 January 2021

Deficit of uridine diphosphate galactose in galactosaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010303

7 January 2021

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010303

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/10.1002%2FHUMU.1380010303

7 January 2021

Molecular analysis of 11 galactosemia patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010303

7 January 2021

Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010303

7 January 2021

Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010303

7 January 2021

Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010303

7 January 2021

Characteristics of galactose-1-phosphate uridyl transferase in intestinal mucosa of normal and galactosemic humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010303

7 January 2021

UDP-glucose: alpha-D-galactose-1-phosphate uridylytransferase activity in cultured human fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010303

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010303

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380010303

1 reference

31 July 2017

1 reference