Anna Salach-Adamowicz

PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants.

Journal: Blood cells, molecules & diseases

Published: December 21, 2023

Growth hormone deficiency as a complication of haemophilia - a case report and literature data.

Journal: Pediatric endocrinology, diabetes, and metabolism

Published: July 31, 2020

A Family Affected by a Life-Threatening Erythrocyte Defect Caused by Pyruvate Kinase Deficiency With Normal Iron Status: A Case Report.

Journal: Frontiers in genetics

Published: May 08, 2020

Hereditary xerocytosis - spectrum and clinical manifestations of variants in the PIEZO1 gene, including co-occurrence with a novel β-globin mutation.

Journal: Blood cells, molecules & diseases

Published: August 09, 2019

Eosin-5'-maleimide binding test-Do we use appropriate reference values to detect hereditary spherocytosis in neonates?

Journal: International journal of laboratory hematology

Published: July 31, 2018

Diminished presentation of complement regulatory protein CD55 on red blood cells from patients with hereditary haemolytic anaemias.

Journal: International journal of laboratory hematology

Published: April 03, 2017

Diagnostic difficulties in a patient with paroxysmal cold haemoglobinuria and acute kidney injury.

Journal: Central-European journal of immunology

Published: December 30, 2016

Two novel C-terminal frameshift mutations in the β-globin gene lead to rapid mRNA decay.

Journal: BMC medical genetics

Published: October 17, 2016

Delayed Measurement of Eosin-5'-Maleimide Binding May Affect the Test Results of Highly Hemolyzed Samples In Vivo and In Vitro-A Case Study.

Journal: Journal of pediatric hematology/oncology

Published: July 29, 2016

Flow cytometric osmotic fragility test: Increased assay sensitivity for clinical application in pediatric hematology.

Journal: Cytometry. Part B, Clinical cytometry

Published: June 05, 2016

Usefulness of Reticulocyte Parameters for Diagnosis of Hereditary Spherocytosis in Children.

Journal: Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion

PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants.

PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants.

Growth hormone deficiency as a complication of haemophilia - a case report and literature data.

Growth hormone deficiency as a complication of haemophilia - a case report and literature data.

A Family Affected by a Life-Threatening Erythrocyte Defect Caused by Pyruvate Kinase Deficiency With Normal Iron Status: A Case Report.

A Family Affected by a Life-Threatening Erythrocyte Defect Caused by Pyruvate Kinase Deficiency With Normal Iron Status: A Case Report.

Hereditary xerocytosis - spectrum and clinical manifestations of variants in the PIEZO1 gene, including co-occurrence with a novel β-globin mutation.

Hereditary xerocytosis - spectrum and clinical manifestations of variants in the PIEZO1 gene, including co-occurrence with a novel β-globin mutation.

Eosin-5'-maleimide binding test-Do we use appropriate reference values to detect hereditary spherocytosis in neonates?

Eosin-5'-maleimide binding test-Do we use appropriate reference values to detect hereditary spherocytosis in neonates?

Diminished presentation of complement regulatory protein CD55 on red blood cells from patients with hereditary haemolytic anaemias.

Diminished presentation of complement regulatory protein CD55 on red blood cells from patients with hereditary haemolytic anaemias.

Diagnostic difficulties in a patient with paroxysmal cold haemoglobinuria and acute kidney injury.

Diagnostic difficulties in a patient with paroxysmal cold haemoglobinuria and acute kidney injury.

Two novel C-terminal frameshift mutations in the β-globin gene lead to rapid mRNA decay.

Two novel C-terminal frameshift mutations in the β-globin gene lead to rapid mRNA decay.

Delayed Measurement of Eosin-5'-Maleimide Binding May Affect the Test Results of Highly Hemolyzed Samples In Vivo and In Vitro-A Case Study.

Delayed Measurement of Eosin-5'-Maleimide Binding May Affect the Test Results of Highly Hemolyzed Samples In Vivo and In Vitro-A Case Study.

Flow cytometric osmotic fragility test: Increased assay sensitivity for clinical application in pediatric hematology.

Flow cytometric osmotic fragility test: Increased assay sensitivity for clinical application in pediatric hematology.

Usefulness of Reticulocyte Parameters for Diagnosis of Hereditary Spherocytosis in Children.

Usefulness of Reticulocyte Parameters for Diagnosis of Hereditary Spherocytosis in Children.

Laparoscopic splenectomy for hereditary spherocytosis-preliminary report.

Laparoscopic splenectomy for hereditary spherocytosis-preliminary report.