Results 31 to 40 of about 3,430 (100)

Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review. [PDF]

Metabolites
Majewska E, Zdort Z, Ochocka A, Paprocka J.   +3 more
europepmc   +1 more source

Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism. [PDF]

JIMD Rep
Selvanathan A, Nazir S, van Wyk K, Simpson E, Holmes V, Hutton R, White F, Schwahn BC.   +7 more
europepmc   +1 more source

The influence of menstrual cycle on metabolic control and diet in patients with phenylketonuria. [PDF]

Orphanet J Rare Dis
Horka L, Landolt K, Erlic Z, Rimann N, Cremonesi A, Hochuli M, Beuschlein F.   +6 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

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

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

Untargeted LC-HRMS of Dried Blood Spots Reveals Metabolic Alterations and Candidate Biomarkers in Glutaric Aciduria Type-1. [PDF]

Metabolites
Mujamammi AH, Mazi TA, AlMalki RH, Sabi EM, Al Mogren M, Alwazae M, AlAhmari R, Sumaily KM, Sebaa R, Abdel Rahman AM.   +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