Results 51 to 60 of about 3,107 (209)
Glanzmann thrombasthenia mimicking early neonatal sepsis [PDF]
[Turgut Özal Tıp Merkezi Dergisi, (2015).22 (3)]Glanzmann trombastenisi pıhtı oluşumunun ilk basamağındaki anormalikten kaynaklanan otozomal resesif geçişli kalıtsal bir hastalıktır. Ekimotik mukokütenöz leziyonlarla ve kana diateziyle ilişkili olgularda,
Demir, Nihat +4 more
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Natalie Mathews,1 Georges-Etienne Rivard,2 Arnaud Bonnefoy2 1Division of Haematology/Oncology, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada; 2Division of Hematology-Oncology, Department of Pediatrics, CHU Sainte ...
Rivard GE, Bonnefoy A, Mathews N
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FREQUENCY OF INHERITED PLATELE FUNCTION DISORDERS–ARMED FORCES INSTITUTE OF PATHOLOGY EXPERIENCE
Objective: To determine the frequency and clinical features of inherited platelet function disorders diagnosed at Armed Forces Institute of Pathology. Study Design: Cross sectional study.
Saira Irum +5 more
doaj +4 more sources
ABSTRACT Introduction Investigator‐led research and quality improvement initiatives have led to important improvements in the diagnostic assessment of platelet function disorders (PFD). Methods Personal reflections were used to summarize our contributions to knowledge on PFD diagnostic assessment, pathogenesis, and bleeding risks.
Catherine P. M. Hayward
wiley +1 more source
Mutations and polymorphisms in Indian patients of Glanzmann's Thrombasthenia (GT).
fs. Frameshift mutations; § Novel variations.Mutations and polymorphisms in Indian patients of Glanzmann's Thrombasthenia (GT).
Shrimati D. Shetty (566739) +7 more
core +1 more source
Glanzmann's thrombasthenia (GT) is a rare inherited bleeding disorder characterized by disturbed ability of the blood platelets to gather around the site of a broken blood vessel and fail to form a plug to stop bleeding due to deficiency of a ...
Rakesh N Bahadure +4 more
doaj +1 more source
The Swiss Haemophilia Registry–Report From the First 8 Years
ABSTRACT Introduction Patient registries capture disease related information and provide a valuable source for real‐world data on rare diseases and their management. The Swiss Haemophilia Registry (SHR) was established in 2015 on the basis of a new Swiss federal human research act.
Alessandra Bosch +8 more
wiley +1 more source
Congenital Thrombasthenia In Children Welfare Teaching Hospital: A Descriptive Study
Background: Thrombasthenia is an inherited genetic disorder affecting platelets, which is characterized by spontaneous muco-cutaneous bleeding and abnormally prolonged bleeding in response to injury or trauma.
Lubna Foad Hussaia, Obeida Amir Abid
doaj
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Transient Thrombasthenia in a Patient with Tuberculosis [PDF]
A 20-year-old Black female presented with menorrhagia and epistaxis. Similar episodes, two years previously, had necessitated blood transfusion. No association with drug ingestion was found and the family history revealed no bleeding diathesis.
Retief, F.P. +3 more
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