Results 61 to 70 of about 3,465 (127)

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

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

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

Sanfilippo syndrome type A with acute metabolic acidosis: a case report of the first documented SGSH c.571G > A homozygous mutation. [PDF]

BMC Pediatr
Zou H, Yang L, Qin Y, Zhang R.
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

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

Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations. [PDF]

Orphanet J Rare Dis
Handoom B, Alohali E, Elsagher H, Alohali L, Alhamed N, Alabyad W.   +5 more
europepmc   +1 more source

Reconstruction of human metabolic models with large language models. [PDF]

Proc Natl Acad Sci U S A
Luo J, Wang H, Moyer D, Guo Z, Robinson JL, Gustafsson J, Anton M, Chen Y, Kerkhoven EJ, Nielsen J, Li F.   +10 more
europepmc   +1 more source