نتایج جستجو برای: shwachman
تعداد نتایج: 1492 فیلتر نتایج به سال:
The determination of the total content of free a-amino acids in urine has become routine in paediatric practice in numerous diseases. Interest in aminoaciduria has greatly increased since it became known that many congenital metabolic disorders are accompanied by an increased excretion of free oc-amino acids in the urine (Paine, 1960; Woolf, 1961). The excretion of free a-amino-N is usually exp...
BACKGROUND Patients with the Shwachman-Diamond syndrome often develop hematologic complications. No risk factors for these complications have so far been identified. The aim of this study was to classify the hematologic complications occurring in patients with Shwachman-Diamond syndrome and to investigate the risk factors for these complications. DESIGN AND METHODS One hundred and two patient...
Telomeres are long DNA repeats and a protein complex at chromosome ends that are essential for genome integrity. Telomeres are very short in patients with dyskeratosis congenita due to germline mutations in telomere biology genes. We compared telomere length in patients with Fanconi anemia, Diamond-Blackfan anemia and Shwachman-Diamond syndrome with telomere length in dyskeratosis congenita. Te...
BACKGROUND Shwachman-Diamond syndrome is an inherited multisystem disorder characterized by bone marrow and pancreatic dysfunction as well as metaphyseal dysostosis. Ninety percent of the patients have mutations in the Shwachman-Bodian-Diamond syndrome gene (SBDS). The relationship between SBDS and cell survival is unknown. In this study we investigated whether deficiency of the SBDS protein ca...
Shwachman-Diamond syndrome (SDS) (OMIM #260400) is a rare inherited bone marrow failure syndrome (IBMFS) that is primarily characterized by neutropenia and exocrine pancreatic insufficiency. Seventy-five to ninety percent of patients have compound heterozygous loss-of-function mutations in the Shwachman-Bodian-Diamond syndrome (sbds) gene. Using trio whole-exome sequencing (WES) in an sbds-nega...
Serum samples from 57 patients with cystic fibrosis were tested for the presence of IgG, IgA, IgM, IgE, and circulating immune complexes containing IgG, IgA, and IgM. Titres of class specific antibodies to Pseudomonas aeruginosa, and class specific antibodies to Ps aeruginosa in circulating immune complexes, were also measured. According to the Shwachman score the patients were divided into thr...
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