Type 5 Familial Hemophagocytic Lymphohistiocytosis in a Seven-year-old Girl Post Second Bone Marrow Transplantation with Failure to Thrive: STXBP2 Novel Mutation (Q91740614)

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scientific article published on 27 November 2019

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English	Type 5 Familial Hemophagocytic Lymphohistiocytosis in a Seven-year-old Girl Post Second Bone Marrow Transplantation with Failure to Thrive: STXBP2 Novel Mutation	scientific article published on 27 November 2019

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instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PMC publication ID

6881083

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31807395%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 April 2020

case report

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title

Type 5 Familial Hemophagocytic Lymphohistiocytosis in a Seven-year-old Girl Post Second Bone Marrow Transplantation with Failure to Thrive: STXBP2 Novel Mutation (English)

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stated in

Europe PubMed Central

PMC publication ID

6881083

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31807395%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 April 2020

main subject

familial hemophagocytic lymphohistiocytosis

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author name string

Abdullah Baothman

series ordinal

1

1 reference

stated in

Europe PubMed Central

PMC publication ID

6881083

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31807395%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 April 2020

Hani Almalki

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2

1 reference

stated in

Europe PubMed Central

PMC publication ID

6881083

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31807395%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 April 2020

Khalid Abumelha

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3

1 reference

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Europe PubMed Central

PMC publication ID

6881083

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31807395%20AND%20SRC:MED&resulttype=core&format=json

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24 April 2020

Abobaker Alshegifi

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4

1 reference

stated in

Europe PubMed Central

PMC publication ID

6881083

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31807395%20AND%20SRC:MED&resulttype=core&format=json

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24 April 2020

Abdulrahman Baashar

series ordinal

5

1 reference

stated in

Europe PubMed Central

PMC publication ID

6881083

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31807395%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 April 2020

publication date

27 November 2019

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Europe PubMed Central

PMC publication ID

6881083

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31807395%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 April 2020

published in

Cureus

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stated in

Europe PubMed Central

PMC publication ID

6881083

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31807395%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 April 2020

volume

11

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Europe PubMed Central

PMC publication ID

6881083

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31807395%20AND%20SRC:MED&resulttype=core&format=json

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24 April 2020

issue

11

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Europe PubMed Central

PMC publication ID

6881083

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31807395%20AND%20SRC:MED&resulttype=core&format=json

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24 April 2020

page(s)

e6246

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Europe PubMed Central

PMC publication ID

6881083

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31807395%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 April 2020

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Low-Frequency Sensorineural Hearing Loss in Familial Hemophagocytic Lymphohistiocytosis Type 5

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PubMed Central

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23 February 2021

MYO5B, STX3 and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update

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Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations.

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23 February 2021

Usual and Unusual Manifestations of Familial Hemophagocytic Lymphohistiocytosis and Langerhans Cell Histiocytosis.

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23 February 2021

Hemophagocytic Lymphohistiocytosis: Single-Center Series of 12 Cases from Saudi Arabia

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23 February 2021

fHLH: becoming a blended family

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23 February 2021

Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning

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23 February 2021

Hemophagocytic syndromes--an update

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23 February 2021

Hemophagocytic lymphohistiocytosis (HLH): a review of literature

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23 February 2021

Munc18b/STXBP2 is required for platelet secretion.

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23 February 2021

Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5).

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PubMed Central

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23 February 2021

How I treat hemophagocytic lymphohistiocytosis

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23 February 2021

Platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)

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23 February 2021

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

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23 February 2021

Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11

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23 February 2021

Early diagnostic and prognostic significance of a specific Th1/Th2 cytokine pattern in children with haemophagocytic syndrome

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23 February 2021

HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.

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Familial haemophagocytic reticulosis

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23 February 2021

Identifiers

DOI

10.7759/CUREUS.6246

1 reference

stated in

Europe PubMed Central

PMC publication ID

6881083

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31807395%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 April 2020

PMC publication ID

6881083

1 reference

stated in

Europe PubMed Central

PMC publication ID

6881083

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31807395%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 April 2020

PubMed publication ID

31807395

1 reference

stated in

Europe PubMed Central

PMC publication ID

6881083

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31807395%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 April 2020

 

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