(Q50532712)

English

Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.

scientific article published on 11 June 2011

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21667091

Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. (English)

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21667091

Jean-Marc Nuoffer

13

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21667091

Saadet Mercimek-Mahmutoglu

9

object named as

Saadet Mercimek-Mahmutoglu

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

author name string

Katharina Engel

1

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21667091

Jean-Marc Vuissoz

2

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21667091

Sandra Eggimann

3

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21667091

Murielle Groux

4

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21667091

Christoph Berning

5

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21667091

Liyan Hu

6

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21667091

Vera Klaus

7

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21667091

Dorothea Moeslinger

8

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21667091

Sylvia Stöckler

10

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21667091

Bendicht Wermuth

11

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21667091

Johannes Häberle

12

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21667091

publication date

11 June 2011

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21667091

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21667091

35

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21667091

1

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21667091

133-140

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21667091

Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9357-X

21 January 2018

Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9357-X

21 January 2018

Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active site

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9357-X

21 January 2018

Hereditary urea cycle diseases in Finland

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9357-X

21 January 2018

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9357-X

21 January 2018

Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9357-X

21 January 2018

Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9357-X

21 January 2018

Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9357-X

21 January 2018

UCSF Chimera--a visualization system for exploratory research and analysis

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9357-X

21 January 2018

Developmental control of argininosuccinate lyase gene by methylation

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9357-X

21 January 2018

Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9357-X

21 January 2018

A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9357-X

21 January 2018

Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9357-X

21 January 2018

Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9357-X

21 January 2018

Mechanisms for intragenic complementation at the human argininosuccinate lyase locus

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9357-X

21 January 2018

Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/21667091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/21667091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A spectrophotometric method for determination of urea

1 reference

https://pubmed.ncbi.nlm.nih.gov/21667091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of duck lens delta-crystallin cDNAs in yeast and bacterial hosts. Delta 2-crystallin is an active argininosuccinate lyase

1 reference

https://pubmed.ncbi.nlm.nih.gov/21667091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles

1 reference

https://pubmed.ncbi.nlm.nih.gov/21667091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Determination of argininosuccinate lyase and arginase activities with an amino acid analyzer

1 reference

https://pubmed.ncbi.nlm.nih.gov/21667091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/21667091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human liver arginiosuccinase purification and partial characterization

1 reference

https://pubmed.ncbi.nlm.nih.gov/21667091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: no impairment of intellectual and psychomotor development during therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21667091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Newborn screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/21667091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Argininosuccinate lyase: purification and characterization from human liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/21667091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion hotspot in the argininosuccinate lyase gene: association with topoisomerase II and DNA polymerase alpha sites

1 reference

https://pubmed.ncbi.nlm.nih.gov/21667091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Amino acid and enzyme studies of brain and other tissues in an infant with argininosuccinic aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/21667091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe liver fibrosis in argininosuccinic aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/21667091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10545-011-9357-X

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21667091

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/21667091

ResearchGate publication ID

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