Response to L-Leucine Therapy in Patients with Daimond-Blakfan Anemia and Serum L-Leucine Concentrations
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چکیده
منابع مشابه
L-Leucine alleviates Diamond-Blackfan anemia.
D iamond-Blackfan anemia (DBA) is a rare genetic disease resulting from sporadic mutations and occasional autosomal-dominant inheritance. Almost uniformly, patients manifest in the newborn period with a macrocytic anemia, occasional multilineage cytopenias, variable developmental abnormalities, and a propensity for cancer.3,4 Underlying mutations in 9 genes encoding ribosomal proteins (RPs) hav...
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There have been many published accounts of idiopathic leucine-sensitive hypoglycaemia of infancy since its description by Cochrane, Payne, Simpkiss, and Woolf in 1956, and raised plasmainsulin levels after the administration of L-leucine have been found in children with this condition (DiGeorge, Auerbach, and Mabry, 1960; Grumbach and Kaplan, 1960; Harmer and Sinclair, 1964). Similar changes in...
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Diamond-Blackfan anemia (DBA) is a congenital erythroid hypoplasia caused by a functional haploinsufficiency of genes encoding for ribosomal proteins. Recently, a case study reported a patient who became transfusion-independent in response to treatment with the amino acid L-leucine. Therefore, we have validated the therapeutic effect of L-leucine using our recently generated mouse model for RPS...
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In the title compound C(13)H(27)N(2)O(3) (+)·Cl(-)·H(2)O, obtained by deprotecting the amino and carboxyl groups of an inter-mediate in the synthesis of the cyclic penta-peptide Galaxamide, a number of hydrogen-bonding inter-actions occur including aminium N-H⋯Cl, amide-carboxyl N-H⋯O, water O-H⋯Cl and carbox-yl-water O-H⋯O associations. The aminium N-H⋯Cl⋯H-N bridging extensions give rise to z...
متن کاملN-(Fluoren-9-ylmethoxycarbonyl)-l-leucine
THE TITLE COMPOUND [SYSTEMATIC NAME: fluoren-9-yl N-(1-carb-oxy-3-methyl-butyl)carbamate], C(21)H(23)NO(4), exhibits torsion angles that vary from the typical values found in other Fmoc-protected amino acids, viz. the orientations of the fluorene and carboxyl groups [C-O-C-C = 93.8 (2) and N-C-C=O = -23.6 (2)°]. The crystal structure exhibits two inter-molecular hydrogen bonds (O-H⋯O and N-H⋯O)...
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ژورنال
عنوان ژورنال: Blood
سال: 2015
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v126.23.3619.3619