2 Result(s)
within
Jean-Marie Saudubray
Human Genetics
Medicine/Public Health, general
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Article
Open AccessHypoglycaemia related to inherited metabolic diseases in adults
In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, cortisol or glucagon insufficiency, non-islet cell tumour, insulinoma, or it may be surreptitious. Nevertheless, some hy...
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Article
Open AccessEndocrine manifestations related to inherited metabolic diseases in adults
Most inborn errors of metabolism (IEM) are recessive, genetically transmitted diseases and are classified into 3 main groups according to their mechanisms: cellular intoxication, energy deficiency, and defects...
