Results 311 to 320 of about 1,343,805 (370)

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Corrigendum to "Metabolic acidosis due to d-lactate in a patient with intestinal resection: Diagnostic challenges and nutritional strategies" [Int. J. Surg. Case Rep. 126 (2025) 110801]. [PDF]

Int J Surg Case Rep
Patiño LA, Fuentes CM, Ochoa OI, Estela-Zape JL.   +3 more
europepmc   +1 more source

Name Game: How to Best Display Nursing Credentials [PDF]

, 2016
Alverson, Elise M, Kessler, Terry A
core   +1 more source

Personalized Genome‐Scale Modeling Reveals Metabolic Perturbations in Fibroblasts of Methylmalonic Aciduria Patients

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Cobalamin (vitamin B12) is an essential cofactor for two human enzymes, methionine synthase and methylmalonyl‐CoA mutase. Inborn errors of cobalamin metabolism (IECMs) are inherited genetic defects resulting in improper transport, modification, or utilization of cobalamin and include inherited methylmalonic acidurias, a group of IECMs most ...
Almut Heinken, Hussein Awada, Vito R. T. Zanotelli, D. Sean Froese, Rosa‐Maria Guéant‐Rodriguez, Jean‐Louis Guéant   +5 more
wiley   +1 more source

Metformin Toxicity Leading to Severe Refractory Hyperkalemia and Metabolic Acidosis: A Case Report. [PDF]

Cureus
Wagle L, Regmi DR, Regmi R, Poudel S, Pant HN.   +4 more
europepmc   +1 more source

Glycine N‐Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the GLYAT: A Novel Inborn Error of Metabolism

JIMD Reports, Volume 66, Issue 5, September 2025.
ABSTRACT The enzyme glycine N‐acyltransferase (GLYAT) plays a crucial role in detoxifying both xenobiotic and endogenous compounds that contain a carboxylic acid group, such as benzoic acid. Data on the impact of human GLYAT on the glycine conjugation pathway is limited and difficult to determine.
Mona Nourbakhsh, Mohammad Miryounesi, Ali Tale, Parvaneh Karimzadeh, Hossein Sadeghi, Mohammad‐Reza Ghasemi, Nasrin Alipour, Elham Pourbakhtyaran, Nakisa Hooman, Maryam Razzaghy‐Azar, Mitra Nourbakhsh, Lil Klaas, Daniel Schulke, Jörn Oliver Sass   +13 more
wiley   +1 more source

Sodium Zirconium Cyclosilicate in CKD, Hyperkalemia, and Metabolic Acidosis: NEUTRALIZE Randomized Study. [PDF]

Kidney360
Ash SR, Batlle D, Kendrick J, Oluwatosin Y, Kooienga L, Eudicone JM, Sundin AK, Guerrieri E, Fried LF.   +8 more
europepmc   +1 more source

3D virtual biopsy of in vivo pH and metabolism using PRESS and semi‐LASER MRS of hyperpolarized 13C nuclei

Magnetic Resonance in Medicine, Volume 94, Issue 3, Page 880-894, September 2025.
Abstract Purpose To develop and evaluate sequences for multi‐voxel magnetic resonance spectroscopy using hyperpolarized molecules. Methods A standard single voxel PRESS sequence was extended to acquire multiple voxels consecutively. Its SNR was compared against a 2D FID‐CSI with both 1H and hyperpolarized 13C nuclei in phantoms and in a healthy mouse ...
Wolfgang Gottwald, Luca Nagel, Martin Grashei, Sebastian Bauer, Nadine Setzer, Florian Gaksch, Sandra Sühnel, Jason G. Skinner, Rickmer Braren, Irina Heid, Geoffrey J. Topping, Franz Schilling   +11 more
wiley   +1 more source