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Targeting T follicular helper cells for lifelong health. [PDF]
Linterman MA +3 more
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Hormonal Crossroads in Inborn Errors of the Metabolism Impact of Puberty and Dietary Interventions on Metabolic Health. [PDF]
Lundqvist T, Stenlid R, Halldin M.
europepmc +1 more source
A Gut Feeling: An Exploratory Multi-Omics Study of Gut Microbiome Dysbiosis and Metabolome and Lipidome Alterations in GATA2 Deficiency. [PDF]
Roncareggi S +19 more
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An overview on cardiac involvement in Inborn Errors of Metabolism: from clinical clues to nutritional management strategies. [PDF]
Montanari C +10 more
europepmc +1 more source
Inborn errors of metabolism in man
International Symposium on Inborn Errors of Metabolism in Man 1977 Tēl-Āvîv +1 more
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Movement Disorders in Treatable Inborn Errors of Metabolism
There are several hundred single-gene disorders that we classify as inborn errors of metabolism. Inborn errors of metabolism are often rare and highly heterogeneous multisystem diseases with non-neurological and neurological manifestations, commonly with
Darius Ebrahimi-Fakhari +1 more
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AN INBORN ERROR OF LIPID METABOLISM
Pediatrics, 1959The present report concerns a new clinical syndrome characterized by hepatomeggaly, retardation of physical and mental growth, and a disturbance of lipids in the plasma. The abnormalities are present in two siblings born of parents who are second cousins. As far as can be determined, none of the six other siblings is affected.
J A, BIGLER +3 more
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Inborn errors of lipid metabolism-dermatological aspects
Clinical and Experimental Dermatology, 1988Summary Skin manifestations of inborn errors of metabolism may be the first alerting clue that leads to their diagnosis. Therefore, practising dermatologists should he familiar with presenting symptoms as well as diagnostic alternatives in this field.
R M, Knobler, S, Becerano, W, Gebhart
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