Segmental uniparental disomy as a rare cause of congenital severe factor XIII deficiency in a girl with only one heterozygous carrier parent.
Shen, Ming-Ching; Chen, Ming; Chang, Shung-Ping; Lin, Po-Te; Hsieh, Han-Ni; Lin, Kai-Hsin.
Pediatr Hematol Oncol
; 35(7-8): 442-446, 2018 Oct - Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30702381
A Unique Factor XIII Mutation in Southeastern Iran with an Unexpectedly High Prevalence: Khash Factor XIII.
Gerinnungsfaktor XIII : Pharmakodynamische und pharmakokinetische Eigenschaften.
Biology of Factor XIII and clinical manifestations of Factor XIII deficiency.
Treatment of an acquired Factor XIII inhibitor in an adolescent with systemic lupus erythematosus and renal failure.
Clinical Use of Factor XIII Concentrates.
Measurement of factor XIII (FXIII) activity by an automatic ammonia release assay using iodoacetamide blank-procedure: no more overestimation in the low activity range and better detection of severe FXIII deficiencies.
Genetic basis of severe factor XIII deficiency in a large cohort of Indian patients: Identification of fourteen novel mutations.
Pharmacokinetics and safety of plasma-derived factor XIII concentrate (human) in patients with congenital factor XIII deficiency.
[Diagnosis and treatment of acquired factor XIII/13 deficiencies: for all doctors treating the MHLW's designated intractable diseases].
Developing the First Recombinant Factor XIII for Congenital Factor XIII Deficiency: Clinical Challenges and Successes.