Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity (Q72823006)

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29 October 2019

review article

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title

Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity (English)

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29 October 2019

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primary hyperoxaluria

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primary hyperoxaluria type I

inferred from title

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inferred from title

phenotypic heterogeneity

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C J Danpure

1

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29 October 2019

P R Jennings

2

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29 October 2019

P Fryer

3

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29 October 2019

P E Purdue

4

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29 October 2019

J Allsop

5

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29 October 2019

publication date

1 January 1994

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Journal of Inherited Metabolic Disease

29 October 2019

published in

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29 October 2019

volume

17

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29 October 2019

issue

4

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29 October 2019

page(s)

487-499

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The action of pyridoxine in primary hyperoxaluria

29 October 2019

cites work

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12 December 2020

Further studies on the activity and subcellular distribution of alanine: Glyoxylate aminotransferase in the livers of patients with primary hyperoxaluria type 1

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Sequential studies of oxalate dynamics in primary hyperoxaluria

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12 December 2020

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

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12 December 2020

Molecular evolution of alanine/glyoxylate aminotransferase 1 intracellular targeting. Analysis of the marmoset and rabbit genes

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12 December 2020

A new micro-assay for human liver alanine: glyoxylate aminotransferase

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12 December 2020

Primary hyperoxaluria: an important cause of renal failure in infancy

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12 December 2020

Immunological heterogeneity of hepatic alanine:glyoxylate aminotransferase in primary hyperoxaluria type 1

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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

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12 December 2020

Immunocytochemical localization of serine: pyruvate aminotransferase in peroxisomes of the human liver parenchymal cells

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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

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12 December 2020

Peroxisomal localization of alanine: Glyoxylate aminotransferase in human liver

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12 December 2020

An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria

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12 December 2020

Renal calculi associated with hyperoxaluria

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12 December 2020

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

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12 December 2020

Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I

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12 December 2020

Combined liver-kidney and isolated liver transplantations for primary hyperoxaluria type 1: the European experience. The European Study Group on Transplantation in Hyperoxaluria Type 1

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12 December 2020

Mitochondrial targeting sequences may form amphiphilic helices

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12 December 2020

Nucleotide sequence of the cDNA encoding the precursor for mitochondrial serine:pyruvate aminotransferase of rat liver

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12 December 2020

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

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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

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12 December 2020

Molecular and clinical heterogeneity in primary hyperoxaluria type 1

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12 December 2020

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

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12 December 2020

Successful treatment of primary hyperoxaluria type I by combined hepatic and renal transplantation

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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.

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12 December 2020

Identifiers

DOI

10.1007/BF00711363

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7967498%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

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