(Q28212331)

English

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

scientific article (publication date: September 2002)

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12408190%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12408190%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

argininosuccinic aciduria

1 reference

based on heuristic

inferred from title

Roberta Battini

9

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12408190%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

author name string

W J Kleijer

1

1 reference

Europe PubMed Central

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14 December 2019

V H Garritsen

2

1 reference

Europe PubMed Central

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14 December 2019

M Linnebank

3

1 reference

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14 December 2019

P Mooyer

4

1 reference

Europe PubMed Central

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14 December 2019

J G M Huijmans

5

1 reference

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14 December 2019

A Mustonen

6

1 reference

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14 December 2019

K O J Simola

7

1 reference

Europe PubMed Central

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14 December 2019

M Arslan-Kirchner

8

1 reference

Europe PubMed Central

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14 December 2019

P Briones

10

1 reference

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14 December 2019

E Cardo

11

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14 December 2019

H Mandel

12

1 reference

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14 December 2019

E Tschiedel

13

1 reference

Europe PubMed Central

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14 December 2019

R J A Wanders

14

1 reference

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14 December 2019

H G Koch

15

1 reference

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14 December 2019

language of work or name

0 references

publication date

1 September 2002

1 reference

Europe PubMed Central

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14 December 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

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14 December 2019

25

1 reference

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14 December 2019

5

1 reference

Europe PubMed Central

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14 December 2019

399-410

1 reference

Europe PubMed Central

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14 December 2019

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12408190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12408190

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/12408190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Argininosuccinic aciduria: prenatal studies in a family at risk

1 reference

https://pubmed.ncbi.nlm.nih.gov/12408190

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/12408190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Measurement of protein using bicinchoninic acid

1 reference

https://pubmed.ncbi.nlm.nih.gov/12408190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria: a case report

1 reference

https://pubmed.ncbi.nlm.nih.gov/12408190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of citrullinemia: elevated levels of citrulline in the amniotic fluid in the three affected pregnancies

1 reference

https://pubmed.ncbi.nlm.nih.gov/12408190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12408190

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/12408190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/12408190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improved method for the antenatal diagnosis of citrullinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/12408190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chorionic villus culture for prenatal diagnosis of chromosome defects: reduction of the long-term cultivation time

1 reference

https://pubmed.ncbi.nlm.nih.gov/12408190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Argininosuccinic aciduria: clinical and biochemical findings in three children with the late onset form, with special emphasis on cerebrospinal fluid findings of amino acids and pyrimidines.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12408190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanisms for intragenic complementation at the human argininosuccinate lyase locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/12408190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12408190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of the urea cycle diseases: a survey of the European cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/12408190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Argininosuccinate synthetase activity and citrulline metabolism in cells cultured from a citrullinemic subject

1 reference

https://pubmed.ncbi.nlm.nih.gov/12408190

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/12408190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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