(Q28139471)

1

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H Cuppens

2

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M Heuterspreute

3

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M Jaspers

4

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E Z Tola

5

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X X Gu

6

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E Legius

7

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M F Vincent

8

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J Jaeken

9

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J J Cassiman

10

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G Van den Berghe

Kinetic studies of mutant human adenylosuccinase

11

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language of work or name

English

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publication date

1999

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published in

Human Mutation

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volume

13

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issue

3

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page(s)

197-202

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cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A3%3C197%3A%3AAID-HUMU3%3E3.0.CO%3B2-D

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A3%3C197%3A%3AAID-HUMU3%3E3.0.CO%3B2-D

Mapping of human chromosome 22 with a panel of somatic cell hybrids

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A3%3C197%3A%3AAID-HUMU3%3E3.0.CO%3B2-D

Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1-->q13.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A3%3C197%3A%3AAID-HUMU3%3E3.0.CO%3B2-D

A reappraisal of non-consensus mRNA splice sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A3%3C197%3A%3AAID-HUMU3%3E3.0.CO%3B2-D

Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A3%3C197%3A%3AAID-HUMU3%3E3.0.CO%3B2-D

Adenylosuccinase deficiency: a newly recognized variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A3%3C197%3A%3AAID-HUMU3%3E3.0.CO%3B2-D

Detection of 5'-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: identification of patients deficient in adenylosuccinate lyase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A3%3C197%3A%3AAID-HUMU3%3E3.0.CO%3B2-D

Adenylosuccinase deficiency presenting with epilepsy in early infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A3%3C197%3A%3AAID-HUMU3%3E3.0.CO%3B2-D

A mutation in adenylosuccinate lyase associated with mental retardation and autistic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A3%3C197%3A%3AAID-HUMU3%3E3.0.CO%3B2-D

First U.S. case of adenylosuccinate lyase deficiency with severe hypotonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A3%3C197%3A%3AAID-HUMU3%3E3.0.CO%3B2-D

Radiochemical assay of adenylosuccinase: demonstration of parallel loss of activity toward both adenylosuccinate and succinylaminoimidazole carboxamide ribotide in liver of patients with the enzyme defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A3%3C197%3A%3AAID-HUMU3%3E3.0.CO%3B2-D

Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A3%3C197%3A%3AAID-HUMU3%3E3.0.CO%3B2-D

Inborn errors of the purine nucleotide cycle: Adenylosuccinase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A3%3C197%3A%3AAID-HUMU3%3E3.0.CO%3B2-D

A somatic cell hybrid with a single human chromosome 22 corrects the defect in the CHO mutant (Ade-I) lacking adenylosuccinase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A3%3C197%3A%3AAID-HUMU3%3E3.0.CO%3B2-D

Characterization of the cDNA and the gene encoding murine adenylosuccinate lyase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A3%3C197%3A%3AAID-HUMU3%3E3.0.CO%3B2-D

Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A3%3C197%3A%3AAID-HUMU3%3E3.0.CO%3B2-D

10.1002/(SICI)1098-1004(1999)13:3<197::AID-HUMU3>3.0.CO;2-D

21 January 2018

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

release_qlbjxv727fe7vmqdeyh46ktwpu

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/qlbjxv727fe7vmqdeyh46ktwpu

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

10090474

1 reference

Consolidated OpenCitations Corpus – April 2017