Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.
about
Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type IPeroxisomal import of human alanine:glyoxylate aminotransferase requires ancillary targeting information remote from its C terminusMolecular etiology of primary hyperoxaluria type 1: new directions for treatmentUnusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation.Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria.Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.The primary hyperoxalurias: an algorithm for diagnosis.An update on primary hyperoxaluria.Hyperoxaluria and systemic oxalosis: an update on current therapy and future directions.Primary hyperoxaluria type 1 in 18 children: genotyping and outcome.Primary hyperoxaluria in populations of Pakistan origin: results from a literature review and two major registries.In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase.Extreme intrafamilial variability of Saudi brothers with primary hyperoxaluria type 1.Recombinant production of eight human cytosolic aminotransferases and assessment of their potential involvement in glyoxylate metabolism.Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria.Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype.Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel.
P2860
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P2860
Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.
@ast
Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.
@en
type
label
Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.
@ast
Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.
@en
prefLabel
Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.
@ast
Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.
@en
P1476
Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.
@en
P2093
Gill Rumsby
Marion B Coulter-Mackie
P356
10.1016/J.YMGME.2004.08.009
P577
2004-09-01T00:00:00Z