×
About 8 results

ALLMedicine™ Atransferrinemia Center

Research & Reviews  4 results

A new case of congenital atransferrinemia with a novel splice site mutation: c.293-63del.
https://doi.org/10.1016/j.ejmg.2020.103874
European Journal of Medical Genetics; Dabboubi R, Amri Y et. al.

Feb 6th, 2020 - Congenital atransferrinemia is an extremely rare autosomal recessive disorder resulting in the complete absence or extremely reduced amount of transferrin. In this study, we describe the first case of congenital atransferrinemia in Tunisia and the...

Apotransferrin in Atransferrinemia
https://clinicaltrials.gov/ct2/show/NCT01797055

Apr 18th, 2018 - Atransferrinemia is a very rare disorder, which is caused by a deficiency of the protein transferrin. No regular treatment is available for these patients. The objective of this study is to investigate the pharmacokinetics, efficacy and safety of ...

Atransferrinemia
https://rarediseases.info.nih.gov/diseases/9595/atransferrinemia

Oct 31st, 2013 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1195 Definition Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) defici...

Severe hypochromic microcytic anemia in a patient with congenital atransferrinemia.
https://doi.org/10.1080/08880010902973251
Pediatric Hematology and Oncology; Shamsian BS, Rezaei N et. al.

Jul 6th, 2009 - Congenital atransferrinemia or hypotransferrinemia is a very rare autosomal recessive disorder, characterized by a deficiency of transferrin, resulting in hypochromic, microcytic anemia and hemosiderosis. The authors describe a 10-year-old Iranian...

see more →

Clinicaltrials.gov  4 results

A new case of congenital atransferrinemia with a novel splice site mutation: c.293-63del.
https://doi.org/10.1016/j.ejmg.2020.103874
European Journal of Medical Genetics; Dabboubi R, Amri Y et. al.

Feb 6th, 2020 - Congenital atransferrinemia is an extremely rare autosomal recessive disorder resulting in the complete absence or extremely reduced amount of transferrin. In this study, we describe the first case of congenital atransferrinemia in Tunisia and the...

Apotransferrin in Atransferrinemia
https://clinicaltrials.gov/ct2/show/NCT01797055

Apr 18th, 2018 - Atransferrinemia is a very rare disorder, which is caused by a deficiency of the protein transferrin. No regular treatment is available for these patients. The objective of this study is to investigate the pharmacokinetics, efficacy and safety of ...

Atransferrinemia
https://rarediseases.info.nih.gov/diseases/9595/atransferrinemia

Oct 31st, 2013 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1195 Definition Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) defici...

Severe hypochromic microcytic anemia in a patient with congenital atransferrinemia.
https://doi.org/10.1080/08880010902973251
Pediatric Hematology and Oncology; Shamsian BS, Rezaei N et. al.

Jul 6th, 2009 - Congenital atransferrinemia or hypotransferrinemia is a very rare autosomal recessive disorder, characterized by a deficiency of transferrin, resulting in hypochromic, microcytic anemia and hemosiderosis. The authors describe a 10-year-old Iranian...

see more →