Background: Data on the frequency and relative risk (RR) of chemotherapy-induced
thrombocytopenia (CIT) in patients with solid tumours receiving chemotherapy in clinical practice …

Pyruvate kinase (PK) deficiency is a rare hereditary disorder affecting red blood cell (RBC)
glycolysis, causing changes in metabolism including a deficiency in adenosine triphosphate (…

Exome sequencing has identified the causes of several Mendelian diseases, although it has
rarely been used in a clinical setting to diagnose the genetic cause of an idiopathic disorder …

Insight into the biogenesis of peptide hormones has grown explosively by elucidation of gene,
mRNA and prohormone structures. In addition, information about prohormone processing …

Purpose The development and validation of algorithms to identify cases of idiopathic acute
liver injury (ALI) are essential to facilitate epidemiologic studies on drug‐induced liver injury. …

We present a novel G 1091 to A mutation in the human liver and red blood cell (RBC) pyruvate
kinase (PK) gene causing severe hemolytic anemia. In two families, three children were …

Hereditary spherocytosis (HS) is the most common form of hereditary chronic hemolytic
anemia. It is caused by mutations in red blood cell (RBC) membrane and cytoskeletal proteins, …

Background: In pharmacoepidemiological studies on the risk of drug-induced blood dyscrasias,
including drug-induced thrombocytopenia (DIT), hospital discharge diagnoses have …

Clozapine is an antipsychotic drug with proven efficacy in treatment‐resistant schizophrenia
but also known to induce potentially lethal agranulocytosis (CIA) in 1% of patients. Genetic …

Geconcludeerd kan worden, dat voor het onderzoek naar α-thalassemie de hier beschreven
PCR-methoden en de RFLP-methoden vergelijkbare resultaten geven. Bij een op …