(Q46302078)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22403017%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

title

Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22403017%20AND%20SRC:MED&resulttype=core&format=json

molybdenum cofactor deficiency

25 January 2020

main subject

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22403017%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

author name string

Emma J Footitt

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22403017%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Serkan Ceyhan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22403017%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Paula J Waters

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22403017%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Cornelis Jakobs

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22403017%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Peter T Clayton

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22403017%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Eduard A Struys

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22403017%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

publication date

9 March 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22403017%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

25 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22403017%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

volume

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22403017%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

issue

6

1 reference

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25 January 2020

page(s)

1031-1036

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22403017%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10545-012-9466-1

25 January 2020

exact match

0 references

cites work

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1 reference

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Lysine metabolism in the rat brain: the pipecolic acid-forming pathway

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L-Pipecolic acid oxidase, a human enzyme essential for the degradation of L-pipecolic acid, is most similar to the monomeric sarcosine oxidases

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Nutritional biochemistry: A new redox-cofactor vitamin for mammals

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Mutations in antiquitin in individuals with pyridoxine-dependent seizures

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Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

21 January 2018

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Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders

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Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy.

21 January 2018

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Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I

21 January 2018

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Metabolism of lysine in alpha-aminoadipic semialdehyde dehydrogenase-deficient fibroblasts: evidence for an alternative pathway of pipecolic acid formation

21 January 2018

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Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature

21 January 2018

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First purification of the antiquitin protein and demonstration of its enzymatic activity.

21 January 2018

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Free radical and ionic reaction of bisulfite with reduced nicotinamide adenine dinucleotide and its analogs

21 January 2018

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Successful treatment of molybdenum cofactor deficiency type A with cPMP.

21 January 2018

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A mechanism of sulfite neurotoxicity: direct inhibition of glutamate dehydrogenase

21 January 2018

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Determination of quinonoid dihydrobiopterin by high-performance liquid chromatography and electrochemical detection

21 January 2018

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12 December 2020

Highly sensitive and simple liquid chromatographic determination in plasma of B6 vitamers, especially pyridoxal 5'-phosphate

1 reference

12 December 2020

Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration

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12 December 2020

The Inhibition of Lactate Dehydrogenase by 3-Acetylpyridine Adenine Dinucleotide and Bisulfite

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12 December 2020