Results 1 to 10 of about 17,346 (144)

Editorial: Inborn errors of carbohydrate metabolism [PDF]

Frontiers in Genetics
Iván Martínez-Duncker, Ida Vanessa Doederlein-Schwartz, Melania Abreu-González, José Elías García-Ortiz   +3 more
doaj   +7 more sources

Editorial: Inborn errors of carbohydrate metabolism volume II [PDF]

Frontiers in Genetics
José Elías García-Ortíz, Ida Vanessa Doederlein-Schwartz, Melania Abreu-González, Melania Abreu-González, Iván Martínez-Duncker   +4 more
doaj   +5 more sources

Editorial: Nutritional management of patients with inborn errors of metabolism [PDF]

Frontiers in Nutrition
Consuelo Pedrón-Giner, Luis Aldamiz-Echevarria, María L. Couce, María L. Couce   +3 more
doaj   +4 more sources

Infant mortality in Brazil attributable to inborn errors of metabolism associated with sudden death: a time-series study (2002–2014)

BMC Pediatrics, 2019
Background The literature suggests that 0.9 to 6% of infants who die unexpectedly may have had a metabolic disorder. At least 43 different inborn errors of metabolism (IEMs) have been associated with sudden death (SUDI).
F. H. de Bitencourt, I. V. D. Schwartz, F. S. L. Vianna   +2 more
doaj   +2 more sources

Inborn Errors of Fructose Metabolism. What Can We Learn from Them?

Nutrients, 2017
Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. Dietary sugar has particular effects on those whose capacity to metabolize fructose is limited.
Christel Tran, Tran Christel
exaly   +2 more sources

Ocular Manifestations of Inborn Errors of Carbohydrate and Lipid Metabolism [PDF]

Archives of Ophthalmology, 1976
Inborn errors of metabolism comprise the mucolipidoses and abnormalities in the metabolism of carbohydrates and of lipids. A large number have ocular manifestations, some of which are essential to the specific diagnoses. The carbohydrate syndromes include galactosemia, with its characteristic cataracts; glycogen storage, with surprisingly few ocular ...
D. Cogan
semanticscholar   +3 more sources

Genomic variants associated with inborn errors in carbohydrate metabolism in southwestern Colombia

Genetics and Clinical Genomics
Introduction: Carbohydrate Inborn Errors of Metabolism (IEMs) result from disruption of the catabolic or anabolic pathways of different carbohydrates, fructose, galactose and glycogen being the most common and belong to a heterogeneous group of disorders that may be inherited or may occur as a result of spontaneous genetic variants.
Jaime David Viafara Belalcazar, Jose María Satizabal Soto, Lina Johanna Moreno Giraldo   +2 more
openaire   +2 more sources

Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency

Molecular Genetics and Metabolism Reports, 2023
The pyruvate dehydrogenase complex serves as the main connection between cytosolic glycolysis and the tricarboxylic acid cycle within mitochondria. An infant with pyruvate dehydrogenase complex deficiency was treated with vitamin B1 supplementation and a
Eri Ogawa, Takako Hishiki, Noriyo Hayakawa, Hisato Suzuki, Kenjiro Kosaki, Makoto Suematsu, Toshiki Takenouchi   +6 more
doaj   +1 more source

Inborn Errors of Metabolism: A Review Article

VIMS Health Science Journal, 2023
Inborn metabolic errors are a diverse range of illnesses that can be inherited or result from natural mutation. Non-fulfillment of metabolic processes involved in the breakdown or storage of carbohydrates, fatty acids, or proteins causes several ...
Dr N Venkatram Reddy, D. A. Shinde, D. S. Mhaske, Dr. Suresh Waydande, D. H. Jadhav   +4 more
semanticscholar   +1 more source

Evaluation of Body Composition, Physical Activity, and Food Intake in Patients with Inborn Errors of Intermediary Metabolism

Nutrients, 2021
Children with inborn errors of intermediary metabolism (IEiM) must follow special diets that restrict their intake of essential nutrients and may compromise normal growth and development.
María José de Castro, P. Sánchez-Pintos, Nisreem Abdelaziz-Salem, R. Leis, M. Couce   +4 more
semanticscholar   +1 more source