(Q35908945)

11 August 2017

1 reference

title

Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis (English)

1 reference

primary hyperoxaluria type I

11 August 2017

1 reference

primary hyperoxaluria

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Marion B Coulter-Mackie

series ordinal

1

1 reference

PubMed ID

15464418

11 August 2017

Gill Rumsby

series ordinal

2

1 reference

11 August 2017

1 September 2004

1 reference

Molecular Genetics and Metabolism

11 August 2017

1 reference

11 August 2017

83

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11 August 2017

1-2

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11 August 2017

38-46

1 reference

Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity

11 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

Transplantation strategies in type 1 primary hyperoxaluria: the issue of pyridoxine responsiveness

7 January 2021

1 reference

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Primary hyperoxaluria: Therapeutic strategies for the 90's

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

Incidence of inborn errors of metabolism in British Columbia, 1969-1996.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

Epidemiology of primary hyperoxaluria type 1. Société de Néphrologie and the Société de Néphrologie Pédiatrique

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

Changing pattern of primary hyperoxaluria in Switzerland

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

End-stage renal disease of the Tunisian child: epidemiology, etiologies, and outcome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

Chronic renal failure in Iranian children

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

A United States survey on diagnosis, treatment, and outcome of primary hyperoxaluria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

Molecular and clinical heterogeneity in primary hyperoxaluria type 1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

Genetic analysis--a diagnostic tool for primary hyperoxaluria type I.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

Identification of 5 novel mutations in the AGXT gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

Clinical implications of mutation analysis in primary hyperoxaluria type 1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

Variable presentation of primary hyperoxaluria type 1 in 2 patients homozygous for a novel combined deletion and insertion mutation in exon 8 of the AGXT gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

Partial deletion of the AGXT gene (EX1_EX7del): A new genotype in hyperoxaluria type 1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

Kinetic analysis and tissue distribution of human D-glycerate dehydrogenase/glyoxylate reductase and its relevance to the diagnosis of primary hyperoxaluria type 2

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

Effect of N-terminal alpha-helix formation on the dimerization and intracellular targeting of alanine:glyoxylate aminotransferase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

A comment on: 'Homology of the NifS family of proteins to a new class of pyridoxal phosphate-dependent enzymes', by Christos Ouzounis and Chris Sander (1993) FEBS Lett. 322, 159-164

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

Nonsense-mediated mRNA decay in health and disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

Molecular aetiology of primary hyperoxaluria and its implications for clinical management

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.009

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2004.08.009

1 reference

11 August 2017

1 reference

PubMed ID

15464418