Results 11 to 20 of about 17,427 (173)

Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism

Molecular Genetics and Metabolism, 2013
A trans-National Institutes of Health initiative, Nutrition and Dietary Supplement Interventions for Inborn Errors of Metabolism (NDSI-IEM), was launched in 2010 to identify gaps in knowledge regarding the safety and utility of nutritional interventions ...
Kathryn M. Camp, M. Lloyd-Puryear, L. Yao, S. Groft, Melissa A. Parisi, A. Mulberg, R. Gopal‐srivastava, S. Cederbaum, Gregory M. Enns, A. Ershow, D. Frazier, J. Gohagan, C. Harding, R. R. Howell, Karen S. Regan, P. Stacpoole, C. Venditti, J. Vockley, M. Watson, P. Coates   +19 more
semanticscholar   +3 more sources

Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008

Annals of Saudi Medicine, 2010
Background and Objectives :Individual inborn errors of metabolism (IEM) are rare disorders, but may not be that uncommon in our patient population. We report the incidence of IEM in a defined cohort of births at the Saudi Aramco medical facilities in the
Moammar Hissa, Cheriyan George, Mathew Revi, Al-Sannaa Nouriya   +3 more
doaj   +2 more sources

Inborn Errors of Metabolism with Hypoglycemia: Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis. [PDF]

The Pediatric clinics of North America, 2018
Although hyperinsulinism is the predominant inherited cause of hypoglycemia in the newborn period, inborn errors of metabolism are the primary etiologies after 1 month of age.
D. Weinstein, U. Steuerwald, C. D. de Souza, T. Derks   +3 more
semanticscholar   +2 more sources

Dietary Inflammatory Index and Nutritional Status in Children with Inborn Errors of Metabolism on Protein-Restricted Diets. [PDF]

Nutrients
Background: The primary treatment for inborn errors of metabolism (IEM) involves restricted intake of natural protein. Inadequate diets can lead to an increased risk of inflammation and susceptibility to infections.
Aktaş E, Çiçek B, Okur I, İnci A, Tümer L.   +4 more
europepmc   +2 more sources

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source

A compendium of inborn errors of metabolism mapped onto the human metabolic network.

Molecular Biosystems, 2012
peer reviewedInborn errors of metabolism (IEMs) are hereditary metabolic defects, which are encountered in almost all major metabolic pathways occurring in man.
Swagatika Sahoo, L. Franzson, J. Jonsson, I. Thiele   +3 more
semanticscholar   +2 more sources

Yoghurt Fortified with Cooked Rice as an Especial Function Food [PDF]

Journal of Food and Dairy Sciences, 2016
The objective of this study was to apply rice as a partial milk substitute to produce low protein yoghurt-like suitable for children suffered from some diseases such as inborn errors of protein metabolism, renal failure and hepatic affection.Rice was ...
Hoida El-Shazly
doaj   +1 more source

A Systematic Review investigating the Effectiveness of Exercise training in Glycogen Storage Diseases

Therapeutic Advances in Rare Disease, 2022
Introduction: Glycogen storage diseases (GSDs) are rare inborn errors of carbohydrate metabolism typically with skeletal muscle and liver involvement. In those with skeletal muscle involvement, the majority display symptoms of exercise intolerance which ...
Claire Bordoli, Elaine Murphy, Ian Varley, Graham Sharpe, Philip Hennis   +4 more
doaj   +1 more source

Disorders of Carbohydrate Absorption, Transmembrane Transport and Metabolism [PDF]

, 2022
Carbohydrates are an important source of energy in the human organism. Within the body, glucose is the most abundant monosaccharide that can be stored as glycogen, a branched polymer with a protein core (glycogenin), mainly in liver and muscle.
Woidy, Mathias, Derks, Terry G.J.; id_orcid, Lubout, Charlotte M.A., Santer, René   +3 more
core   +1 more source

Clinical Spectrum of Inborn Errors of Metabolism in Children in a Tertiary Care Hospital [PDF]

, 2020
INTRODUCTION: Inborn errors of metabolism are the hereditary diseases which occurs due to disturbances in normal biochemical process. Although individual diseases are rare, they collectively cause significant amount of morbidity and mortality.
Jayashree, K R
core