(Q33829402)

29 July 2017

title

Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry (English)

1 reference

Shwachman-Diamond syndrome

29 July 2017

main subject

1 reference

Kasiani C Myers

1

1 reference

29 July 2017

Audrey Anna Bolyard

2

1 reference

29 July 2017

Barbara Otto

3

1 reference

29 July 2017

Trisha E Wong

4

1 reference

29 July 2017

Amanda T Jones

5

1 reference

29 July 2017

Richard E Harris

6

1 reference

29 July 2017

Stella M Davies

7

1 reference

29 July 2017

David C Dale

8

1 reference

29 July 2017

Akiko Shimamura

9

1 reference

29 July 2017

language of work or name

English

0 references

publication date

31 December 2013

1 reference

The Journal of Pediatrics

29 July 2017

published in

1 reference

29 July 2017

volume

164

1 reference

29 July 2017

issue

4

1 reference

29 July 2017

page(s)

866-870

1 reference

Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077327

Shwachman-Diamond syndrome: diarrhea, no longer required?

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077327

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077327

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077327

Hematopoietic stem cell transplantation for bone marrow failure syndromes in children

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077327

The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077327

Flow cytometry and FISH to measure the average length of telomeres (flow FISH).

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077327

The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077327

Shwachman-Diamond syndrome: report from an international conference

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077327

Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077327

10.1016/J.JPEDS.2013.11.039

29 October 2018

Identifiers

DOI

1 reference

29 July 2017

1 reference

29 July 2017

1 reference