ReviewJournal of inherited metabolic disease1994
Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity.
Review in Journal of inherited metabolic disease, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 110 citations in OpenAlex.
- A randomised Phase I/II trial to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria.Pediatric nephrology (Berlin, Germany) · 2017Trial
- A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXT.Journal of inherited metabolic disease · 2025Article
- Variable treatment response to lumasiran in pediatric patients with primary hyperoxaluria type 1.Pediatric nephrology (Berlin, Germany) · 2025Observational
- Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease.Journal of nephrology · 2022Article
- Molecular therapy of primary hyperoxaluria.Journal of inherited metabolic disease · 2017Review
- Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones.Scientific reports · 2016Article
- Predictors of Incident ESRD among Patients with Primary Hyperoxaluria Presenting Prior to Kidney Failure.Clinical journal of the American Society of Nephrology : CJASN · 2016Article
- Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.Journal of the American Society of Nephrology : JASN · 2015Article
- Protein homeostasis defects of alanine-glyoxylate aminotransferase: new therapeutic strategies in primary hyperoxaluria type I.BioMed research international · 2013Review
- Extreme intrafamilial variability of Saudi brothers with primary hyperoxaluria type 1.Therapeutics and clinical risk management · 2012Article
- Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with primary hyperoxaluria type I.Molecular genetics and metabolism · 2012Article
- Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria.BMC nephrology · 2011Article
- Skeletal features of primary hyperoxaluria type 1, revisited.Journal of children's orthopaedics · 2008Article
- Oxalate crystal deposition disease.Current rheumatology reports · 2002Review
- Pyridoxine-responsive nephrocalcinosis and glycolic aciduria in two siblings without hyperoxaluria and with normal alanine: glyoxalate aminotransferase activity.Journal of inherited metabolic disease · 2000Article
- Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT).Journal of inherited metabolic disease · 1997Article
- Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.Journal of medical genetics · 1997Article
- What are the present possibilities for the prenatal diagnosis of primary hyperoxaluria?Pediatric nephrology (Berlin, Germany) · 1996Review
- DNA diagnosis of X-linked adrenoleukodystrophy.Journal of inherited metabolic disease · 1995Review
- Molecular and cell biology of primary hyperoxaluria type 1.The Clinical investigator · 1994Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disease caused by a deficiency of the liver-specific peroxisomal enzyme alanine: glyoxylate aminotransferase (AGT). The disease is notable for its extensive heterogeneity at the clinical, biochemical, enzymic and molecular genetic levels. A study of 116 PH1 patients over the past 8 years has revealed four main enzymic phenotypes: (1) absence of both AGT catalytic activity and immunoreactive AGT protein (approximately 40% of patients); (2) absence of AGT catalytic activity but presence of immunoreactive protein (approximately 16% of patients); (3) presence of both AGT catalytic activity and immunoreactive protein (approximately 41% of patients), in most of which cases the AGT is mistargeted to the mitochondria instead of the peroxisomes; and (4) a variation of the mistargeting phenotype in which AGT is equally distributed between peroxisomes and mitochondria, but in which that in the peroxisomes is aggregated into matrical core-like structures (approximately 3% of patients). Various point mutations, all occurring at conserved positions in the coding regions of the AGT gene, have been identified in these patients. The five mutations discussed in the present study, which have been found in individuals manifesting all of the four major enzymic phenotypes, account for the expressed alleles in about half of all Caucasian PH1 patients. The most common mutation found so far leads to a Gly170-->Arg amino acid substitution. This mutation, in combination with a normally occurring Pro11-->Leu polymorphism, appears to be responsible for the unprecedented peroxisome-to-mitochondrion mistargeting phenotype.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.