Results 171 to 180 of about 2,214,124 (236)

Targeting T follicular helper cells for lifelong health. [PDF]

open access: yesNat Rev Drug Discov
Linterman MA   +3 more
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]

open access: yesInt J Mol Sci
Roncareggi S   +19 more
europepmc   +1 more source

An overview on cardiac involvement in Inborn Errors of Metabolism: from clinical clues to nutritional management strategies. [PDF]

open access: yesFront Cardiovasc Med
Montanari C   +10 more
europepmc   +1 more source

Inborn errors of metabolism in man

open access: yes
International Symposium on Inborn Errors of Metabolism in Man 1977 Tēl-Āvîv   +1 more
core  

Movement Disorders in Treatable Inborn Errors of Metabolism

open access: yesMovement Disorders, 2019
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
exaly   +2 more sources
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AN INBORN ERROR OF LIPID METABOLISM

Pediatrics, 1959
The 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
openaire   +2 more sources

Inborn errors of lipid metabolism-dermatological aspects

Clinical and Experimental Dermatology, 1988
Summary 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
openaire   +2 more sources

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