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A Novel Pathogenic Sense Variant in Exon 7 of the HK1 Gene in a Patient with Hexokinase Deficiency and Gilbert Syndrome.
Genes (Basel)
December 2024
Department of Paediatrics Hemato-Oncology and Paediatric Gastroenterology, Pomeranian Medical University, 70-204 Szczecin, Poland.
Background: Hexokinase (HK) deficiency is a rare autosomal recessively inherited disease manifested by chronic nonspherocytic hemolytic anemia. Most patients present with a mild to severe course of the disease (fetal hydrocephalus, neonatal hyperbilirubinemia, severe anemia). We reviewed 37 cases of patients with hexokinase deficiency described so far, focusing on the severity of the disease, clinical presentation, treatment applied, and genetic test results.
View Article and Find Full Text PDFPlasma Exchange and N-Acetylcysteine Therapy in a Case of Congenital Thrombotic Thrombocytopenic Purpura Presenting With Acute Renal Failure.
J Pediatr Hematol Oncol
January 2025
Departments of Pediatric Hematology.
Congenital thrombotic thrombocytopenic purpura (cTTP), which is associated with mutations in the gene for a disintegrin and metalloproteinase with a thrombospondin type 1 motif member 13 (ADAMTS13), is a chronic and lifelong disease. The clinical course is variable. Regularly using ADAMTS13-containing products such as fresh frozen plasma (FFP) for long-term prophylaxis is the most important treatment to prevent thrombotic microangiopathy (TMA) episodes.
View Article and Find Full Text PDFOvarian tissue cryopreservation for a girl with combined severe hemolytic anemia due to pyruvate kinase deficiency: a case report and literature review.
Gynecol Endocrinol
December 2024
Department of Gynecological Endocrinology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, China.
Objective: To present a young girl with pyruvate kinase deficiency (PKD) and concurrent severe hemolytic anemia who underwent fertility preservation and cryopreservation. Clinical symptoms, diagnosis, treatment, and new strategies for fertility protection and preservation in PKD patients who require allogeneic hematopoietic stem cell therapy are explored.
Case Presentation: Six-year-old girl with persistent unconjugated hyperbilirubinemia and severe hemolytic anemia since birth, continuous elevation of bilirubin levels and severe splenomegaly.
Neonatal lupus erythematosus: 24 years of experience from a tertiary centre at Chandigarh, North India.
Lupus
January 2025
Allergy Immunology Unit, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Objective: To study the clinical features and laboratory parameters of neonatal lupus erythematosus (NLE) from India.
Patients And Methods: We analyzed case records of children diagnosed with NLE in the Pediatric Rheumatology Clinic at tertiary care centre from North India during the period January 1999 - December 2023.
Results: Twenty-four babies are diagnosed with NLE during the study period.
10-Year Risk of Gallstones in Congenital Red Blood Cell Disorder Patients: A Nationwide Cohort Study.
Am J Hematol
February 2025
Department of Hematology, Odense University Hospital, Odense, Denmark.
Chronic hemolysis potentially elevates the risk of gallstones in several types of congenital red blood cell (RBC) disorders. However, the magnitude of the risk is unknown. We investigate the risk of gallstone disease in congenital RBC disorder patients, compared with general population comparators.
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