Results 111 to 120 of about 17,427 (173)

A Gut Feeling: An Exploratory Multi-Omics Study of Gut Microbiome Dysbiosis and Metabolome and Lipidome Alterations in GATA2 Deficiency. [PDF]

Int J Mol Sci
Roncareggi S, Fioredda F, Girardi K, Serrao S, Capitoli G, Fumagalli R, Nobile M, Fazio G, Guerra F, Valsecchi MG, Rebellato S, Casillo M, Fantuz MR, Savarese G, Paglia G, Gambineri E, Balduzzi AC, Biondi A, Saettini F, Italian GATA2 Study Group.   +19 more
europepmc   +1 more source

Mitochondrial dysfunction in methylmalonic acidemia: A pilot study using Seahorse technology in peripheral blood. [PDF]

Mol Genet Metab Rep
Stanescu S, Villate O, Andrade F, Gonzalez-Lamuño D, Bélanger-Quintana A, Arrieta F, Couce ML, Muriel A, Aldamiz-Echevarria L.   +8 more
europepmc   +1 more source

Ketogenic Diet in Children with Type 1 Diabetes: Parental Motivations and Potential Risks for Metabolic Health and Development. [PDF]

Nutrients
Kovinthapillai R, Lan YY, Kędzia A, Niechciał E.   +3 more
europepmc   +1 more source

Inborn errors of carbohydrate metabolism

Bailliere's Best Practice and Research in Clinical Gastroenterology, 2010
Glycogen storage diseases (GSD) and inborn errors of galactose and fructose metabolism are the most common representatives of inborn errors of carbohydrate metabolism. In this review the focus is set on the current knowledge about clinical symptoms, diagnosis and treatment.
Ertan Mayatepek, Thomas Meissner
exaly   +5 more sources

Updated Gene Therapy for Renal Inborn Errors of Metabolism. [PDF]

Genes (Basel)
Hergenrother S, Husein M, Thompson C, Kalina E, Raina R.   +4 more
europepmc   +1 more source

Amino Acid Metabolism in Liver Mitochondria: From Homeostasis to Disease. [PDF]

Metabolites
Erdal R, Birsoy K, Unlu G.
europepmc   +1 more source

AminoApp: The First Brazilian Application for Dietary Monitoring of Inborn Errors of Metabolism in Patients on a Low-Protein Diet. [PDF]

Healthc Inform Res
Franceschetto BF, Orlandi JM, Rosa WC, Scortegagna ML, Farret L, Schwartz IVD, Poloni S.   +6 more
europepmc   +1 more source

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat! [PDF]

J Inherit Metab Dis
den Hollander B, Hoytema van Konijnenburg EMM, Hewitson B, van der Meijden JC, Balfoort BM, Winter B, Müller AR, Wasserman WW, Ferreira CR, van Karnebeek CD.   +9 more
europepmc   +1 more source

Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes. [PDF]

Int J Neonatal Screen
Upadia J, Noh G, Crivelly K, Aziz E, Cunningham A, Andersson HC.   +5 more
europepmc   +1 more source

Blood Based Vascular Marker Responses to Ocufolin^® in Diabetic Retinopathy Patients Carrying MTHFR Polymorphisms. [PDF]

Biomark Insights
Wang J, Hoover A, Townsend JH, Yehoshua Z, Stremousov K, de Rivero Vaccari JP, Jiang H.   +6 more
europepmc   +1 more source