Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy (Q36812193)

16 August 2017

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy (English)

1 reference

16 August 2017

6

1 reference

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31 May 2020

David Valcarcel

8

1 reference

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31 May 2020

Massimiliano Filosto

10

1 reference

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31 May 2020

Jaap A. Bakker

19

1 reference

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31 May 2020

Jaap Jan Boelens

20

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31 May 2020

Ramon Martí

30

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31 May 2020

33

Alois Gratwohl

1 reference

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31 May 2020

31

Patrick F Chinnery

1 reference

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31 May 2020

32

Ronit Elhasid

1 reference

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31 May 2020

author name string

Joerg P Halter

1

1 reference

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31 May 2020

W Michael

2

1 reference

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31 May 2020

M Schüpbach

3

1 reference

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31 May 2020

Hanna Mandel

4

1 reference

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31 May 2020

Carlo Casali

5

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31 May 2020

Matthew Collin

7

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31 May 2020

Attilio Rovelli

9

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31 May 2020

Maria T Dotti

11

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31 May 2020

Giuseppe Marotta

12

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31 May 2020

Guillem Pintos

13

1 reference

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31 May 2020

Pere Barba

14

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31 May 2020

Anna Accarino

15

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31 May 2020

Christelle Ferra

16

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31 May 2020

Isabel Illa

17

1 reference

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31 May 2020

Yves Beguin

18

1 reference

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31 May 2020

Irenaeus F M de Coo

21

1 reference

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31 May 2020

Keith Fay

22

1 reference

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31 May 2020

Carolyn M Sue

23

1 reference

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31 May 2020

David Nachbaur

24

1 reference

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31 May 2020

Heinz Zoller

25

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31 May 2020

Claudia Sobreira

26

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31 May 2020

Belinda Pinto Simoes

27

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31 May 2020

Simon R Hammans

28

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31 May 2020

David Savage

29

1 reference

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31 May 2020

Michio Hirano

34

1 reference

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31 May 2020

language of work or name

English

0 references

publication date

10 August 2015

1 reference

16 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26264513%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

138

1 reference

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31 May 2020

issue

Pt 10

1 reference

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31 May 2020

page(s)

2847-2858

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26264513%20AND%20SRC:MED&resulttype=core&format=json

Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning

31 May 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

Outcomes after related and unrelated umbilical cord blood transplantation for hereditary bone marrow failure syndromes other than Fanconi anemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

Defining the intensity of conditioning regimens: working definitions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

Hematopoietic cell transplantation specific comorbidity index as an outcome predictor for patients with acute myeloid leukemia in first remission: combined FHCRC and MDACC experiences

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

Altered thymidine metabolism due to defects of thymidine phosphorylase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

Clinical and biochemical improvement following HSCT in a patient with MNGIE: 1-year follow-up.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

Identification of a saturable uptake system for deoxyribonucleosides at the blood-brain and blood-cerebrospinal fluid barriers

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4836400

Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26264513

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26264513

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/26264513

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWV226

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26264513%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26264513%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

PubMed publication ID

26264513

1 reference