(Q33897750)

29 July 2017

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title

Genetic disorders and urolithiasis (English)

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29 July 2017

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C J Danpure

1

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29 July 2017

publication date

1 May 2000

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Urologic Clinics of North America

29 July 2017

published in

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29 July 2017

volume

27

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29 July 2017

issue

2

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29 July 2017

page(s)

287-99, viii

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Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child

29 July 2017

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7 January 2021

Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes

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7 January 2021

The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity

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7 January 2021

Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase

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7 January 2021

High-Resolution Comparative Mapping of the Proximal Region of the Mouse X Chromosome

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7 January 2021

Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement

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7 January 2021

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

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7 January 2021

Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria

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7 January 2021

The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II

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7 January 2021

Advances in the enzymology and molecular genetics of primary hyperoxaluria type 1. Prospects for gene therapy

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7 January 2021

Molecular and clinical heterogeneity in primary hyperoxaluria type 1

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7 January 2021

Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I

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7 January 2021

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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7 January 2021

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

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7 January 2021

Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity

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7 January 2021

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

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7 January 2021

HYPERCALCURIC RICKETS ASSOCIATED WITH RENAL TUBULAR DAMAGE.

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7 January 2021

Xanthinuria, an inborn error (or deviation) of metabolism

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7 January 2021

Report of the committee on the genetic constitution of chromosomes 13, 14, 15, 16 and 17

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https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis)

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

Adenine phosphoribosyltransferase deficiency in man. Report of a second family

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

A new location for the human adenine phosphoribosyltransferase gene ( APRT ) distal to the haptoglobin ( HP ) and fra(16)(q23) ( FRAUD ) loci

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

X-linked recessive nephrolithiasis with renal failure

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7 January 2021

Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells

1 reference

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7 January 2021

Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme

1 reference

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7 January 2021

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

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7 January 2021

Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

Cloning of the cDNA encoding human xanthine dehydrogenase (oxidase): structural analysis of the protein and chromosomal location of the gene

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

Hypercalciuria and nephrocalcinosis in patients with idiopathic low-molecular-weight proteinuria in Japan: is the disease identical to Dent's disease in United Kingdom?

1 reference

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7 January 2021

Deduced amino acid sequence from human phosphoribosylpyrophosphate synthetase subunit II cDNA.

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7 January 2021

4q33-qter deletion and absorptive hypercalciuria: report of two unrelated girls

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7 January 2021

Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.

1 reference

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7 January 2021

A common molecular basis for three inherited kidney stone diseases

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7 January 2021

Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage

1 reference

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7 January 2021

Mapping of the gene for human xanthine dehydrogenase (oxidase) (XDH) to band p23 of chromosome 2.

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

Mutations of the basic amino acid transporter gene associated with cystinuria

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

A disorder of uric acid metabolism and cerebral function in childhood

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

Fine structure of the human hypoxanthine phosphoribosyltransferase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

Localization of a gene causing cystinuria to chromosome 2p

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

Biochemical and clinical studies in Libyan Jewish cystinuria patients and their relatives

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

Cloning of two distinct copies of human phosphoribosylpyrophosphate synthetase cDNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

Cystinuria: Genetic Heterogeneity and Allelism

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

First trimester diagnosis of primary hyperoxaluria type I

1 reference

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7 January 2021

The human gene for xanthine dehydrogenase (XDH) is localized on chromosome band 2q22.

1 reference

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7 January 2021

Transplantation for primary hyperoxaluria in the USA.

1 reference

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7 January 2021

Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

2,8-Dihydroxyadenine urolithiasis

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

An X-linked syndrome characterised by hyperuricaemia, deafness, and neurodevelopmental abnormalities

1 reference

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7 January 2021

Accelerated erythrocyte 5-phosphoribosyl-1-pyrophosphate synthesis. A familial abnormality associated with excessive uric acid production and gout

1 reference

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7 January 2021

Xanthinuria: An Additional Case with Demonstration of Xanthine Oxidase Deficiency

1 reference

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7 January 2021

Human erythrocyte phosphoribosylpyrophosphate synthetase mutationally altered in regulatory properties.

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

Localization of human phosphoribosylpyrophosphate synthetase subunit I and II genes (PRPS1 and PRPS2) to different regions of the X chromosome and assignment of two PRPS1-related genes to autosomes

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

Complete deficiency of adenine phosphoribosyltransferase. Report of a family

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

Enzyme Defect in a Case of Xanthinuria

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

L-glyceric aciduria. A new genetic variant of primary hyperoxaluria

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

Molecular cloning and characterization of the human xanthine dehydrogenase gene (XDH).

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

Assignment of human xanthine dehydrogenase gene to chromosome 2p22.

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

Evidence for X-linkage of phosphoribosylpyrophosphate synthetase in man. Studies with cultured fibroblasts from a gouty family with mutant feedback-resistant enzyme

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0094-0143%2805%2970258-5

7 January 2021

10.1016/S0094-0143(05)70258-5

Identifiers

DOI

1 reference

29 July 2017

1 reference