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About 125 results

ALLMedicine™ Congenital Amegakaryocytic Thrombocytopenia Center

Research & Reviews  61 results

CAMT-MPL: Congenital Amegakaryocytic Thrombocytopenia caused by MPL mutations - Heterog...
https://doi.org/10.3324/haematol.2020.257972
Haematologica Germeshausen M, Ballmaier M

Jul 24th, 2020 - Congenital amegakaryocytic thrombocytopenia caused by deleterious homozygous or compound heterozygous mutations in MPL (CAMT-MPL) is a rare inherited bone marrow failure syndrome presenting as an isolated thrombocytopenia at birth progressing to p...

"Immune" Thrombocytopenia as Key Feature of a Novel ADA2 Deficiency Variant: Implicatio...
https://doi.org/10.1097/MPH.0000000000001132
Journal of Pediatric Hematology/oncology; Sundin M, Marits P et. al.

Apr 5th, 2018 - Thrombocytopenia presenting during early childhood is most commonly diagnosed as immune/idiopathic thrombocytopenic purpura (ITP), where the antibody-mediated destruction of thrombocytes is often transient. If treatment is indicated, the majority ...

MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873238
Blood Advances; Germeshausen M, Ancliff P et. al.

Mar 15th, 2018 - Heterozygous mutations in MECOM (MDS1 and EVI1 complex locus) have been reported to be causative of a rare association of congenital amegakaryocytic thrombocytopenia and radioulnar synostosis. Here we report on 12 patients with congenital hypomega...

Gene editing rescue of a novel MPL mutant associated with congenital amegakaryocytic th...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728092
Blood Advances; Cleyrat C, Girard R et. al.

Jan 3rd, 2018 - Thrombopoietin (Tpo) and its receptor (Mpl) are the principal regulators of early and late thrombopoiesis and hematopoietic stem cell maintenance. Mutations in MPL can drastically impair its function and be a contributing factor in multiple hemato...

Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutati...
https://doi.org/10.1097/MPH.0000000000000944
Journal of Pediatric Hematology/oncology; Lo C, Alvarez E et. al.

Aug 31st, 2017 - Congenital amegakaryocytic thrombocytopenia (CAMT, MIM# 604498) is a rare congenital bone marrow failure syndrome which presents early in life with abnormal bleeding because of thrombocytopenia. Classically, megakaryocytes are decreased to absent ...

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Drugs  1 results see all →

Clinicaltrials.gov  63 results

CAMT-MPL: Congenital Amegakaryocytic Thrombocytopenia caused by MPL mutations - Heterog...
https://doi.org/10.3324/haematol.2020.257972
Haematologica Germeshausen M, Ballmaier M

Jul 24th, 2020 - Congenital amegakaryocytic thrombocytopenia caused by deleterious homozygous or compound heterozygous mutations in MPL (CAMT-MPL) is a rare inherited bone marrow failure syndrome presenting as an isolated thrombocytopenia at birth progressing to p...

"Immune" Thrombocytopenia as Key Feature of a Novel ADA2 Deficiency Variant: Implicatio...
https://doi.org/10.1097/MPH.0000000000001132
Journal of Pediatric Hematology/oncology; Sundin M, Marits P et. al.

Apr 5th, 2018 - Thrombocytopenia presenting during early childhood is most commonly diagnosed as immune/idiopathic thrombocytopenic purpura (ITP), where the antibody-mediated destruction of thrombocytes is often transient. If treatment is indicated, the majority ...

MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873238
Blood Advances; Germeshausen M, Ancliff P et. al.

Mar 15th, 2018 - Heterozygous mutations in MECOM (MDS1 and EVI1 complex locus) have been reported to be causative of a rare association of congenital amegakaryocytic thrombocytopenia and radioulnar synostosis. Here we report on 12 patients with congenital hypomega...

Gene editing rescue of a novel MPL mutant associated with congenital amegakaryocytic th...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728092
Blood Advances; Cleyrat C, Girard R et. al.

Jan 3rd, 2018 - Thrombopoietin (Tpo) and its receptor (Mpl) are the principal regulators of early and late thrombopoiesis and hematopoietic stem cell maintenance. Mutations in MPL can drastically impair its function and be a contributing factor in multiple hemato...

Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutati...
https://doi.org/10.1097/MPH.0000000000000944
Journal of Pediatric Hematology/oncology; Lo C, Alvarez E et. al.

Aug 31st, 2017 - Congenital amegakaryocytic thrombocytopenia (CAMT, MIM# 604498) is a rare congenital bone marrow failure syndrome which presents early in life with abnormal bleeding because of thrombocytopenia. Classically, megakaryocytes are decreased to absent ...

see more →