(Q34105318)

31 July 2017

title

Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency (English)

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31 July 2017

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Johnson JL

1

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31 July 2017

Coyne KE

2

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31 July 2017

Rajagopalan KV

3

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31 July 2017

Van Hove JL

4

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31 July 2017

Mackay M

5

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31 July 2017

Pitt J

6

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31 July 2017

Boneh A

7

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31 July 2017

publication date

1 November 2001

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American Journal of Medical Genetics Part A

31 July 2017

published in

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31 July 2017

volume

104

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31 July 2017

issue

2

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31 July 2017

page(s)

169-173

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Short-term response to dietary therapy in molybdenum cofactor deficiency

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011122%29104%3A2%3C169%3A%3AAID-AJMG1603%3E3.0.CO%3B2-8

Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011122%29104%3A2%3C169%3A%3AAID-AJMG1603%3E3.0.CO%3B2-8

Ahomocysteinemia in molybdenum cofactor deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011122%29104%3A2%3C169%3A%3AAID-AJMG1603%3E3.0.CO%3B2-8

Molybdenum cofactor deficiency in a patient previously characterized as deficient in sulfite oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011122%29104%3A2%3C169%3A%3AAID-AJMG1603%3E3.0.CO%3B2-8

Molybdenum cofactor biosynthesis in humans. Identification of two complementation groups of cofactor-deficient patients and preliminary characterization of a diffusible molybdopterin precursor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011122%29104%3A2%3C169%3A%3AAID-AJMG1603%3E3.0.CO%3B2-8

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011122%29104%3A2%3C169%3A%3AAID-AJMG1603%3E3.0.CO%3B2-8

Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011122%29104%3A2%3C169%3A%3AAID-AJMG1603%3E3.0.CO%3B2-8

Genetics of molybdenum cofactor deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011122%29104%3A2%3C169%3A%3AAID-AJMG1603%3E3.0.CO%3B2-8

Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011122%29104%3A2%3C169%3A%3AAID-AJMG1603%3E3.0.CO%3B2-8

Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011122%29104%3A2%3C169%3A%3AAID-AJMG1603%3E3.0.CO%3B2-8

Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011122%29104%3A2%3C169%3A%3AAID-AJMG1603%3E3.0.CO%3B2-8

Infantile isolated sulphite oxidase deficiency: report of a case with negative sulphite test and normal sulphate excretion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011122%29104%3A2%3C169%3A%3AAID-AJMG1603%3E3.0.CO%3B2-8

10.1002/1096-8628(20011122)104:2<169::AID-AJMG1603>3.0.CO;2-8

21 January 2018

Identifiers

DOI

1 reference

release_kmdbpddx5jekdot7uxqnvcfuzm

31 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/kmdbpddx5jekdot7uxqnvcfuzm

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference