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Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.
TLDR
It is demonstrated that both the molecular defect in XLSA/A and the impaired maturation of a cytosolic Fe/S protein result from an ABC7 mutation in the reported family. Expand
A study of the pathogenesis of Helicobacter pylori negative chronic duodenal ulceration.
TLDR
Three abnormalities of gastric function are prevalent in patients with H pylori negative idiopathic DU disease - hypergastrinaemia, increased acid secretion, and the one feature distinguishing them from H pylonori positive patients with DU - rapid gastric emptying of both liquids and solids. Expand
Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by
TLDR
The value of combined phlebotomy and pyridoxine supplementation in the management of XLSA probands is indicated in order to prevent a downward spiral of iron toxicity and refractory anemia. Expand
Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired
TLDR
The need to consider all elderly patients with microcytic sideroblastic anemia as candidates for XLSA, especially if pyridoxine responsiveness is demonstrated, is emphasized. Expand
The management of pregnancy in paroxysmal nocturnal haemoglobinuria on long term eculizumab
TLDR
Eculizumab appears safe to use in this setting and is likely to prevent many of the complications usually observed in women with PNH, including the first two patients to receive the drug from conception to delivery. Expand
Erythroblast iron metabolism and serum soluble transferrin receptor values in the anemia of rheumatoid arthritis.
TLDR
An increase in erythroblast surface TfR efficiency for Tf-iron uptake compensates for the low plasma iron levels associated with anemia in RA and helps to maintain RA ery Throttleblast iron uptake. Expand
The anaemia of chronic disease
TLDR
Though the chronic disease that leads to the anaemia is usually easily identified, this is not always so, and occult disease must be considered in every case of unexplained anaemia. Expand
Immunocytochemical demonstration of T4 content and TSH-binding by cells of the thyroid of the developing chick embryo.
TLDR
The data demonstrate that selected cells of the "prefollicular" thyroid contain T4 and bind TSH at least as early as Day 5.5, and changes in the Nv of T4-positive and TSH-binding cells over developmental time are discussed with regard to pituitary regulation of the chick embryo thyroid. Expand
CD34-positive cells isolated from cryopreserved peripheral-blood progenitor cells can be expanded ex vivo and used for transplantation with little or no toxicity.
TLDR
These data demonstrate that CD34 cells can successfully be selected from cryopreserved material, expanded ex vivo on a large scale, and safely reinfused following myeloablative conditioning regimens. Expand
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