1,720,980 research outputs found
Multisystem triglyceride storage disorder with impaired long‐chain fatty acid oxidation
No full textA five‐year‐old girl presented with congenital ichthyosis, hepatosplenomegaly, vacuolized granulocytes (Jordans' anomaly), and myopathy. Pathological, ultrastructural, and biochemical studies revealed nonlysosomal, multisystemic triglyceride storage. The cultured fibroblasts had increased uptake but decreased oxidation of labeled oleate. The patient failed to produce ketone bodies on fasting. A medium‐chain triglyceride diet reversed the hepatomegaly. These studies are all consistent with a partial defect in the catabolism of long‐chain fatty acids. This newly identified syndrome is presumably transmitted as an autosomal recessive trait. Copyright © 1980 American Neurological Associatio
Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance.
No full textMultisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides.
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Effect of bone marrow transplantation (BMT) preparative regimens on growth of prepubertal children
No full textIpoparatiroidismo come sintomo d'esordio della sindrome di Kearns-Sayre. Descrizione clinica di un caso con ampia delezione del DNA mitocondriale.
No full textGoing Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Sjogren-Larsson syndrome: nuclear magnetic resonance imaging of the brein in a 4-years-old boy.
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