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 January 1997
- journal article
- case report
- Published by Elsevier in American Journal of Kidney Diseases
- Vol. 29 (1) , 36-44
- https://doi.org/10.1016/s0272-6386(97)90006-8
Abstract
No abstract availableKeywords
This publication has 17 references indexed in Scilit:
- Changing pattern of primary hyperoxaluria in SwitzerlandNephrology Dialysis Transplantation, 1995
- Primary hyperoxaluria type 1: Genotypic and phenotypic heterogeneityJournal of Inherited Metabolic Disease, 1994
- Fluorescence in Situ Hybridization Mapping of 25 Markers on Distal Human Chromosome 2q Surrounding the Human Waardenburg Syndrome, Type I (WS1) Locus (PAX3 Gene)Genomics, 1993
- Management of primary hyperoxaluria: efficacy of oral citrate administrationPediatric Nephrology, 1993
- Characterization and chromosomal mapping of a genomic clone encoding human alanine:Glyoxylate aminotransferaseGenomics, 1991
- Molecular and Clinical Heterogeneity in Primary Hyperoxaluria Type 1American Journal of Kidney Diseases, 1991
- Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.The Journal of cell biology, 1990
- An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria.The Journal of cell biology, 1989
- Immunocytochemical localization of human hepatic alanine: glyoxylate aminotransferase in control subjects and patients with primary hyperoxaluria type 1.Journal of Histochemistry & Cytochemistry, 1988
- Further studies on the activity and subcellular distribution of alanine: Glyoxylate aminotransferase in the livers of patients with primary hyperoxaluria type 1Clinical Science, 1988