Erblich bedingte Thrombozytopenien

M. Ballmaier; C. Balduini; K. Welte; M. Germeshausen

doi:10.1007/s00112-006-1346-z

Erblich bedingte Thrombozytopenien

Translated title of the contribution: Inherited thrombocytopenias

M. Ballmaier, C. Balduini, K. Welte, M. Germeshausen

IRCCS Fondazione Policlinico San Matteo

Research output: Contribution to journal › Article › peer-review

Abstract

Inherited thrombocytopenias are a heterogeneous group of rare diseases characterized by reduced numbers of blood platelets. The clinical spectrum ranges from severe syndromal forms with multiorgan involvement and severe bleeding to mild conditions that may remain undetected. In most cases, defects have been described in genes coding for membrane glycoproteins, cytoskeletal components, intracellular signaling pathways, and transcription factors. However, the pathophysiologic mechanisms remain elusive in a number of diseases. This review describes pathophysiologic, clinical, and diagnostic aspects of inherited thrombocytopenias.

Translated title of the contribution	Inherited thrombocytopenias
Original language	German
Pages (from-to)	510-521
Number of pages	12
Journal	Monatsschrift fur Kinderheilkunde
Volume	154
Issue number	6
DOIs	https://doi.org/10.1007/s00112-006-1346-z
Publication status	Published - Jun 2006

Keywords

Bleeding diathesis
Thrombocytopathy
Thrombocytopenia

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1007/s00112-006-1346-z

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abstract = "Inherited thrombocytopenias are a heterogeneous group of rare diseases characterized by reduced numbers of blood platelets. The clinical spectrum ranges from severe syndromal forms with multiorgan involvement and severe bleeding to mild conditions that may remain undetected. In most cases, defects have been described in genes coding for membrane glycoproteins, cytoskeletal components, intracellular signaling pathways, and transcription factors. However, the pathophysiologic mechanisms remain elusive in a number of diseases. This review describes pathophysiologic, clinical, and diagnostic aspects of inherited thrombocytopenias.",

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T1 - Erblich bedingte Thrombozytopenien

AU - Ballmaier, M.

AU - Balduini, C.

AU - Welte, K.

AU - Germeshausen, M.

PY - 2006/6

Y1 - 2006/6

N2 - Inherited thrombocytopenias are a heterogeneous group of rare diseases characterized by reduced numbers of blood platelets. The clinical spectrum ranges from severe syndromal forms with multiorgan involvement and severe bleeding to mild conditions that may remain undetected. In most cases, defects have been described in genes coding for membrane glycoproteins, cytoskeletal components, intracellular signaling pathways, and transcription factors. However, the pathophysiologic mechanisms remain elusive in a number of diseases. This review describes pathophysiologic, clinical, and diagnostic aspects of inherited thrombocytopenias.

AB - Inherited thrombocytopenias are a heterogeneous group of rare diseases characterized by reduced numbers of blood platelets. The clinical spectrum ranges from severe syndromal forms with multiorgan involvement and severe bleeding to mild conditions that may remain undetected. In most cases, defects have been described in genes coding for membrane glycoproteins, cytoskeletal components, intracellular signaling pathways, and transcription factors. However, the pathophysiologic mechanisms remain elusive in a number of diseases. This review describes pathophysiologic, clinical, and diagnostic aspects of inherited thrombocytopenias.

KW - Bleeding diathesis

KW - Thrombocytopathy

KW - Thrombocytopenia

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Erblich bedingte Thrombozytopenien

Abstract

Keywords

ASJC Scopus subject areas

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