Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome. (Q37132309)

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18 January 2020

title

Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome (English)

1 reference

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18 January 2020

1

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18 January 2020

5

Jörgen Bierau

1 reference

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18 January 2020

author name string

Patrick Schlesser

series ordinal

2

1 reference

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18 January 2020

Hubert J M Smeets

series ordinal

3

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18 January 2020

Baudouin Francois

series ordinal

4

1 reference

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18 January 2020

publication date

12 February 2010

1 reference

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Journal of Inherited Metabolic Disease

18 January 2020

published in

1 reference

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18 January 2020

volume

33 Suppl 3

1 reference

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18 January 2020

page(s)

S139-43

1 reference

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https://scigraph.springernature.com/pub.10.1007/s10545-010-9049-y

18 January 2020

exact match

0 references

cites work

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

1 reference

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Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion

14 September 2017

1 reference

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Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

14 September 2017

1 reference

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Digestive smooth muscle mitochondrial myopathy in patients with mitochondrial-neuro-gastro-intestinal encephalomyopathy (MNGIE).

14 September 2017

1 reference

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Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency

14 September 2017

1 reference

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Diagnosis and management of MNGIE syndrome in children: case report and review of the literature

14 September 2017

1 reference

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MNGIE: from nuclear DNA to mitochondrial DNA.

14 September 2017

1 reference

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Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations

14 September 2017

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Activity and substrate specificity of pyrimidine phosphorylases and their role in fluoropyrimidine sensitivity in colon cancer cell lines

14 September 2017

1 reference

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Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE).

14 September 2017

1 reference

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A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9049-Y

Pre- and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9049-Y

Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9049-Y

Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9049-Y

Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9049-Y

Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9049-Y

Determination of thymidine phosphorylase activity by a non-radiochemical assay using reversed-phase high-performance liquid chromatography

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9049-Y

The activity of dihydropyrimidine dehydrogenase in human blood cells

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20151198

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mitochondrial DNA Depletion and Thymidine Phosphate Pool Dynamics in a Cellular Model of Mitochondrial Neurogastrointestinal Encephalomyopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20151198

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Infusion of platelets transiently reduces nucleoside overload in MNGIE

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20151198

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-010-9049-Y

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20151198%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20151198%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

20151198

1 reference