Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome. - Wikidata - awgldk - TriplyDB

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

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

http://www.wikidata.org/entity/Q37132309

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Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.Emergency surgery in chronic intestinal pseudo-obstruction due to mitochondrial neurogastrointestinal encephalomyopathy: case reports.

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

http://www.wikidata.org/entity/Q37132309

description

article científic

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article scientifique

@fr

articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 12 February 2010

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Biochemical abnormalities in a ...... deficiency with fatal outcome.

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Biochemical abnormalities in a ...... deficiency with fatal outcome.

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type

label

Biochemical abnormalities in a ...... deficiency with fatal outcome.

@en

Biochemical abnormalities in a ...... deficiency with fatal outcome.

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Biochemical abnormalities in a ...... deficiency with fatal outcome.

@en

Biochemical abnormalities in a ...... deficiency with fatal outcome.

@nl

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S10545-010-9049-Y

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Journal of Inherited Metabolic Disease

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Biochemical abnormalities in a ...... deficiency with fatal outcome

@en

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Baudouin Francois

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Hubert J M Smeets

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Jörgen Bierau

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Patrick Schlesser

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P2860

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

MNGIE: from nuclear DNA to mitochondrial DNA.

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

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

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

Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

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

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

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

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

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s10545-010-9049-y

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S139-43

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scholarly article

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10.1007/S10545-010-9049-Y

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33 Suppl 3

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2010-02-12T00:00:00Z

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41425608

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20151198

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3757267

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