Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.

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Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.

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http://www.wikidata.org/entity/Q47141540

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2017 nî lūn-bûn

@nan

2017年の論文

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2017年学术文章

@wuu

2017年学术文章

@zh

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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name

Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.

@en

Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.

@nl

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Item

label

Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.

@en

Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.

@nl

prefLabel

Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.

@en

Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.

@nl

P1476

Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.

@en

P2093

Alexandre Belot

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Damien Heidelberg

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Emily Charrier

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Geneviève De Saint-Basile

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Yves Bertrand

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P2860

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis

Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis

Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients

Analysis of protein-coding genetic variation in 60,706 humans

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A

Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.

Prognostic Factors and Long-Term Outcome in 52 Turkish Children With Hemophagocytic Lymphohistiocytosis.

Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood

Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis.

P304

1743-1749

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P31

scholarly article

case report

P356

10.1002/CCR3.1135

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P433

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P478

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P50

Thierry Walzer

Sarah Benezech

P577

2017-09-12T00:00:00Z

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P698

29152263

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P932

5676276

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