Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Congenital amegakaryocytic thrombocytopenia (CAMT) - a defect of the thrombopoietin receptor c-Mpl].

Klinische Padiatrie - 1 Jan 2000

Germeshausen M, Schulze H, Gaudig A, Krukemeier S, Strauss G, Welte K, Ballmaier M

Abstract excerpt

Congenital amegakaryocytic thrombocytopenia (CAMT) is a very rare bone marrow failure syndrome presenting with isolated hypomegakaryocytic thrombocytopenia at birth developing into a pancytopenia during the first years of life. Bone marrow transplantation is the only curative therapy for this disease so far. Thrombopoietin (TPO) is the most important hematopoietic growth factor for the regulation of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Blood Platelets
Share to Hematopoiesis
Share to Megakaryocytes

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Pancytopenia

Share to Receptors, Cytokine

Share to Receptors, Thrombopoietin

Share to Thrombocytopenia

Share to Thrombopoietin

Source

Identifiers

PMID: 11528548
DOI: 10.1055/s-2001-16846

Genes

TPO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Congenital amegakaryocytic thrombocytopenia (CAMT) - a defect of the thrombopoietin receptor c-Mpl].PMID 11528548Read ↗

c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.Semantic proximity Read ↗

[From gene to disease; from a thrombopoietin receptor gene defect to congenital amegakaryocytic thrombocytopenia].Semantic proximity Read ↗

Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopeniaSemantic proximity Read ↗

Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.Semantic proximity Read ↗

Thrombopoietin is essential for the maintenance of normal hematopoiesis in humans: development of aplastic anemia in patients with congenital amegakaryocytic thrombocytopenia.Semantic proximity Read ↗

Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment.Semantic proximity Read ↗

MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.Semantic proximity Read ↗

Congenital amegakaryocytic thrombocytopenia.Semantic proximity Read ↗

CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients.Semantic proximity Read ↗

Congenital amegakaryocytic thrombocytopenic purpura (CAMT).Semantic proximity Read ↗

Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia.Semantic proximity Read ↗

Congenital amegakaryocytic thrombocytopenia - Not a single disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.