The paper describes the role of foods and nutrition in the promotion of human health. The relationship between foods, metabolism, homeostasis and metabolic disorder are briefly described.
Sarmidi, Mohamad Roji
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Characteristics of motor function in children with hereditary neuromuscular disease
Objective To analyze the characteristics of motor function in children with different types of hereditary neuromuscular disease (HNMD). Methods A total of 61 children with HNMD admitted to Peking University First Hospital from January 2018 to January ...
LI Wen-zhu +3 more
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Not So Rare: Errors of Metabolism during the Neonatal Period
During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend a poor prognosis or lethality. Over the past two decades, the prognosis of many EMs has changed.
Banta-Wright, Sandra, Steiner, Robert D.
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Primary Atopic Disorders: Expanding Field of Inborn Errors of Immunity
Inborn errors of immunity cover a broad spectrum of diseases from immune deficiency syndromes to hyperinflammatory conditions. Primary atopic disorders are a recent member of this spectrum as a group that embracing monogenic immune deregulatory diseases ...
Güzin Özçifci +3 more
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This is the first in a series of newsletters designed to inform the Virginia medical community of recent advances in the area of genetics and metabolism and to provide information regarding a variety of services that are available at the Medical College ...
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Garrod's Inborn Factors in Disease. By C.R. Scriver, B. Childs. Oxford Monographs in Medical Genetics No.16. Oxford University Press. 1989. 247 pages, £25.00. ISBN 0 19 261574 2. [PDF]
openaire +1 more source
Toward a monogenic architecture of human infections: From 1996 to 2026. [PDF]
Casanova JL.
europepmc +1 more source
Human medicines European public assessment report (EPAR): Respreeza, alpha1-proteinase inhibitor (human), Genetic Diseases, Inborn,Lung Diseases, Date of authorisation: 20/08/2015, Revision: 6, Status: Authorised [PDF]
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Autoimmunity and inborn errors of immunity: a complex coexistence. [PDF]
Elamine A +6 more
europepmc +1 more source

