Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies. (Q54459492)

From Wikidata

Jump to navigation Jump to search

scientific article

Language	Label	Description	Also known as
English	Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/3876264

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

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/3876264

1 reference

based on heuristic

inferred from title

author name string

S Fujimori

1

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/3876264

I Akaoka

2

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/3876264

K Sakamoto

3

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/3876264

H Yamanaka

4

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/3876264

K Nishioka

5

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/3876264

N Kamatani

6

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/3876264

publication date

1 January 1985

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/3876264

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/3876264

71

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/3876264

2

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/3876264

171-176

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/3876264

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human hypoxanthine-guanine phosphoribosyltransferase. Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human hypoxanthine-guanine phosphoribosyltransferase

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human hypoxanthine-guanine phosphoribosyltransferase. Purification and characterization of mutant forms of the enzyme

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Child's Urinary Lithiasis Revealing a Complete Deficit in Adenine Phosphoribosyl Transferase

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human adenine phosphoribosyltransferase. Immunochemical quantitation and protein blot analysis of mutant forms of the enzyme

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A search for electrophoretic variants of human adenine phosphoribosyl transferase

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe impairment in adenine metabolism with a partial deficiency of adenine phosphoribosyltransferase

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Urolithiasis Due to 2,8-Dihydroxyadenine in an Adult

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adenine phosphoribosyltransferase deficiency in man. Report of a second family

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

International system for human gene nomenclature (1979) ISGN (1979).

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered kinetic properties of a mutant adenine phosphoribosyltransferase

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Renal failure due to 2,8-dihydroxyadenine urolithiasis

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The identification of 2,8-dihydroxyadenine, a new component of urinary stones

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular basis of the clinical syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

2,8-dihydroxyadenine urolithiasis: review of the literature and report of a case in the United States.

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correlation between adenylate metabolizing enzymes and adenine nucleotide levels of erythrocytes during blood storage in various media

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

2,8-dihydroxyadenine stone in children

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine]

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kinetic studies of mutant human erythrocyte adenine phosphoribosyltransferases

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dihydroxyadenine Urolithiasis in Children with Partial Deficiency of Adenine Phosphoribosyltransferase

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adenine phosphoribosyltransferase deficiency presenting with supposed 'uric acid' stones: pitfalls of diagnosis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adenine phosphoribosyltransferase deficiency: its inheritance and occurrence in a female with gout and renal disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complete deficiency of adenine phosphoribosyltransferase. Report of a family

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary deficiency of adenine phosphoribosyl transferase

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adenine phosphoribosyltransferase: a simple spectrophotometric assay and the incidence of mutation in the normal population

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adenine and adenosine metabolism in intact erythrocytes deficient in adenosine monophosphate-pyrophosphate phosphoribosyltransferase: a study of two families

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrum of 2,8-dihydroxyadenine urolithiasis in complete APRT deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Urolithiasis composed of 2,8-dihydroxyadenine due to partial deficiency of adenine phosphoribosyltransferase. Report of a case (author's transl)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial deficiency of adenine phosphoribosyltransferase in man

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human adenine phosphoribosyltransferase. Purification, subunit structure, and substrate specificity

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout

1 reference

https://pubmed.ncbi.nlm.nih.gov/3876264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00283377

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/3876264

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/3876264

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q54459492&oldid=2212476747"