Results 101 to 110 of about 54,540 (236)

A Girl with A Glowing Tooth : A Case of Congenital Erythropoietic Porphyria

Siriraj Medical Journal, 2004
Congenital erythropoietic porphyria is a rare type of porphyria caused by inherited defects of uroporphyrinogen III synthase, an enzyme in the heme biosynthetic pathway. The resultant accumulation of porphyrins causes damage to the skin and erythrocytes,
Chatchawan Srisawat, Kleebsabai Sanpakit, Wanee Wisutsareevong, Vichit Leenutaphong, Chairat Permpikul, Neelobol Neungton   +5 more
doaj  

Intracranial Extramedullary Hematopoiesis in a Patient with Intermediate B-Thalassemia

مجله دانشکده پزشکی اصفهان, 2011
Background: Extramedullary hematopoiesis refers to formation of hematopoietic tissue and it is a compensatory phenomen in hematologic disease like congenital hemolytic anemia, myelofibrosis, pernicious anemia & Bone marrow infiltration secondary to ...
Parvin Mahzuni, Homayoon Tabesh, Mojgan Mokhtari, Ahmad Shekarchizadeh, Azadeh Karami   +4 more
doaj  

Clinico-mutational profile and the impact of splenectomy in children with glucose-6-phosphate isomerase deficiency

Pediatric Hematology Oncology Journal
Background: There is a lack of literature on the role of splenectomy in hemolytic anemias due to glucose-6-phosphate isomerase (GPI) deficiency. GPI deficiency is a rare red blood cell (RBC) enzymopathy of the glycolytic pathway. Most present with severe
Abhilasha Sampagar, Abhishek Chandira, Swapnil Pattanshetti, Santosh Kurbet, Ashwini Doddannavar, Krishna Prasanna   +5 more
doaj   +1 more source

Late‐onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation?

JIMD Reports
Methionine synthase reductase deficiency (cblE) is a rare autosomal recessive inborn error of cobalamin metabolism caused by pathogenic variants in the methionine synthase reductase gene (MTRR).
Alexandre Nguyen, Samuel Deshayes, Marie Nowoczyn, Apolline Imbard, Lamisse Mansour‐Hendili, Alexandre Cesbron, Jean François Benoist, Manuel Schiff   +7 more
doaj   +1 more source

Risk of hereditary spherocytosis misdiagnosis due to limited effective diagnostic methods

Revista Cubana de Medicina Militar
Introduction: Hereditary spherocytosis is a prevalent congenital hemolytic erythrocyte membranopathy. Laboratory diagnosis is traditionally based on erythrocyte morphology, yet 20% of cases may lack visible spherocytes, leading to misdiagnosis.
Hien Thanh Dao, Triet Hy Van, Tuyet Thi Bach Tran, Dat Quoc Ngo, Anh Thi Mai Nguyen   +4 more
doaj  

Ganglioneuroma in a child with hereditary spherocytosis

The Turkish Journal of Pediatrics, 2012
Hereditary spherocytosis (HS) is the most frequent cause of congenital hemolytic anemia. Extramedullary hematopoiesis (EMH) mimicking a mass may develop in the lymph nodes, kidneys, pleura, mediastinum, adrenal gland, and in particular the spleen ...
Haci Ahmet Demir, Semanur Ozdel, Ayper Kaçar, Emrah Senel, Suna Emir, Bahattin Tunç   +5 more
doaj  

A rare case of pregnancy-associated thrombotic thrombocytopenic purpura. [PDF]

Oxf Med Case Reports
Elmezayen ZW, Samara E, Zayed A, Hamed T.   +3 more
europepmc   +1 more source

Congenital Thrombotic Thrombocytopenic Purpura Presenting as Recurrent Ischemic Stroke in a Young Adult: A Genetically Confirmed Case. [PDF]

Cureus
V R, Soundar M, K S, Balagopal AK, K H, R V, S ST.   +6 more
europepmc   +1 more source

Pernicious Anemia Presenting as Pseudo-Thrombotic Microangiopathy: A Case Report. [PDF]

Cureus
Mudupula Vemula SS, Adhikari S, Motkur S, Alshaikhli A, Hrinczenko B.   +4 more
europepmc   +1 more source

A single-center study: three years of experience with whole-exome sequencing in diagnosing pediatric hematological disorders. [PDF]

Ital J Pediatr
Salah S, Mobarak A, Alshanbari SN, Bukhari AA, Alsobhi F, Farahat SAA, Masmali HM.   +6 more
europepmc   +1 more source