Validation of a novel algorithm with a high specificity in ruling out MDS
International Journal of Laboratory Hematology, Volume 46, Issue 3, Page 510-514, June 2024.Abstract Introduction A previously published web‐based App using Gradient‐boosted models (GBMs) of eight laboratory parameters was established by Oster et al. to facilitate diagnosis or exclusion of myelodysplastic syndromes (MDS) in patients. Methods To validate their algorithm, we compared 175 anemic patients with MDS diagnosis from our German MDS ...
Felicitas Schulz +7 more
wiley +1 more source
Johanson–Blizzard syndrome caused by novel UBR1 mutation in four Saudi patients
JPGN Reports, Volume 5, Issue 2, Page 140-147, May 2024.Abstract Johanson–Blizzard syndrome (JBS) is a rare genetic disorder caused by Ubiquitin Protein Ligase E3 Component N‐Recognin1 (UBR1) gene mutations. It is characterized by exocrine pancreatic insufficiency, craniofacial deformities, sensorineural hearing loss, and a broad variety of intellectual disabilities.
Khalid Noli +5 more
wiley +1 more source
A Case Report of Inflammatory Myopathy and Sideroblastic Anemia
Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2007 Mitochondrial myopathy, lactic acidosis, and siderobastic anemia (MLA SA) syndrome is one of the newly reported mitochondrial diseases, seven cases of which have been reported. We report a child with inflammatory myopathy, sideroblastic anemia and lactic
F Binesh, M Mortazavi Zadeh, R Fallah
doaj
Bone Marrow δ-Aminolevulinic Acid Synthetase Activity in Hematological Disorders [PDF]
, 1977 1977-01An improved radiochemical method to measure the δ-aminoJevulinic acid (ALA) synthetase activity in human bone marrow erythroblasts by incubating bone marrow cell homogenate with 14C-succinate and succinyl CoA generating system has been reported ...
46691, TANAKA, MASAO
core
Erythropoiesis and Iron Sulfur Cluster Biogenesis [PDF]
, 2010 Erythropoiesis in animals is a synchronized process of erythroid cell differentiation that depends on successful acquisition of iron. Heme synthesis depends on iron through its dependence on iron sulfur (Fe-S) cluster biogenesis.
Rouault, Tracey A., Ye, Hong
core +3 more sources
Discovery of Genes Essential for Heme Biosynthesis through Large-Scale Gene Expression Analysis [PDF]
, 2009 SummaryHeme biosynthesis consists of a series of eight enzymatic reactions that originate in mitochondria and continue in the cytosol before returning to mitochondria.
Baughman, Joshua M. +13 more
core +1 more source
Bone marrow delta-aminolaevulinate synthase deficiency in a female with congenital sideroblastic anemia [PDF]
, 1980 GR Buchanan, Bottomley Ss, R Nitschke
openalex +3 more sources
Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria [PDF]
, 2017 Loss-of-function mutations in genes for heme biosynthetic enzymes can give rise to congenital porphyrias, eight forms of which have been described. The genetic penetrance of the porphyrias is clinically variable, underscoring the role of additional ...
Baker, Tania +14 more
core +2 more sources
582 Δ-AMINOLEVULINIC ACID (ALA) SYNTHETASE DEFECT IN A FEMALE WITH CONGENITAL SIDEROBLASTIC ANEMIA [PDF]
, 1978 George R. Buchanan +2 more
openalex +1 more source
Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors [PDF]
, 2018 OBJECTIVES: To characterise the clinical features, immune manifestations and molecular mechanisms in a recently described autoinflammatory disease caused by mutations in TRNT1, a tRNA processing enzyme, and to explore the use of cytokine inhibitors in ...
et al +3 more
core +1 more source