(Q41323374)

English

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

scientific article published on January 1997

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

29 September 2017

1 reference

Europe PubMed Central

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

29 September 2017

primary hyperoxaluria

1 reference

based on heuristic

inferred from title

autosomal recessive disease

1 reference

based on heuristic

inferred from title

primary hyperoxaluria type I

1 reference

based on heuristic

inferred from title

author name string

Hoppe B

1

1 reference

Europe PubMed Central

PubMed publication ID

29 September 2017

Danpure CJ

2

1 reference

Europe PubMed Central

PubMed publication ID

29 September 2017

Rumsby G

3

1 reference

Europe PubMed Central

PubMed publication ID

29 September 2017

Fryer P

4

1 reference

Europe PubMed Central

PubMed publication ID

29 September 2017

Jennings PR

5

1 reference

Europe PubMed Central

PubMed publication ID

29 September 2017

Blau N

6

1 reference

Europe PubMed Central

PubMed publication ID

29 September 2017

Schubiger G

7

1 reference

Europe PubMed Central

PubMed publication ID

29 September 2017

Neuhaus T

8

1 reference

Europe PubMed Central

PubMed publication ID

29 September 2017

Leumann E

9

1 reference

Europe PubMed Central

PubMed publication ID

29 September 2017

publication date

1 January 1997

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Europe PubMed Central

PubMed publication ID

29 September 2017

American Journal of Kidney Diseases

1 reference

Europe PubMed Central

PubMed publication ID

29 September 2017

29

1 reference

Europe PubMed Central

PubMed publication ID

29 September 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

29 September 2017

36-44

1 reference

Europe PubMed Central

PubMed publication ID

29 September 2017

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

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2897%2990006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome, type I (WS1) locus (PAX3 gene)

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2897%2990006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2897%2990006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2897%2990006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2FS0272-6386%2897%2990006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular and clinical heterogeneity in primary hyperoxaluria type 1

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2897%2990006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Changing pattern of primary hyperoxaluria in Switzerland

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2897%2990006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Management of primary hyperoxaluria: efficacy of oral citrate administration

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2897%2990006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2897%2990006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2897%2990006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2897%2990006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

EQUIL2: a BASIC computer program for the calculation of urinary saturation

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2897%2990006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Dependence of urine composition on the age and sex of healthy subjects

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2897%2990006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Urinary oxalate and glycolate excretion and plasma oxalate concentration

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2897%2990006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Urinary oxalate and glycolate excretion in healthy infants and children

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2897%2990006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2897%2990006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Success of kidney transplantation in oxalosis is unrelated to residual hepatic enzyme activity

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2897%2990006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0272-6386(97)90006-8

1 reference

Europe PubMed Central

PubMed publication ID

29 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 September 2017

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