(Q73764599)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9323564%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9323564%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

main subject

primary hyperoxaluria

1 reference

primary hyperoxaluria type I

inferred from title

1 reference

A C Tarn

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9323564%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

C von Schnakenburg

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9323564%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

G Rumsby

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9323564%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

publication date

1 September 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9323564%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

6 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9323564%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9323564%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9323564%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

page(s)

689-696

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9323564%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1023/a:1005326510239

6 November 2019

exact match

0 references

cites work

Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon

1 reference

12 December 2020

Immunocytochemical localization of human hepatic alanine: glyoxylate aminotransferase in control subjects and patients with primary hyperoxaluria type 1

1 reference

12 December 2020

Recent advances in the understanding, diagnosis and treatment of primary hyperoxaluria type 1.

1 reference

12 December 2020

Enzymological diagnosis of primary hyperoxaluria type 1 by measurement of hepatic alanine: glyoxylate aminotransferase activity

1 reference

12 December 2020

Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene

1 reference

12 December 2020

Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation

1 reference

12 December 2020

Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase

1 reference

12 December 2020

Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I

1 reference

12 December 2020

Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity

1 reference

12 December 2020

TaqI polymorphism at the alanine:glyoxylate aminotransferase (AGXT) gene locus

1 reference

12 December 2020

Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene

1 reference

12 December 2020

A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity

1 reference

12 December 2020

Inhibition of alanine:glyoxylate aminotransferase 1 dimerization is a prerequisite for its peroxisome-to-mitochondrion mistargeting in primary hyperoxaluria type 1.

1 reference

12 December 2020

Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine:glyoxylate aminotransferase gene.

1 reference

12 December 2020

Strategies for the prenatal diagnosis of primary hyperoxaluria type 1.

1 reference

12 December 2020

Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1

1 reference

12 December 2020

A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1

1 reference

12 December 2020

Primary hyperoxaluria type I.

1 reference

12 December 2020

Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome, type I (WS1) locus (PAX3 gene)

1 reference

12 December 2020

New aspects of infantile oxalosis

1 reference

12 December 2020

A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1

1 reference

12 December 2020

An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1.

1 reference

12 December 2020