Results 221 to 230 of about 135,428 (332)

Antenatal Presentation of MRPS22‐Related Mitochondrial Disease Confirmed With Rapid Proteomics

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT MRPS22‐related mitochondrial disease (MIM#611719) is a rare autosomal recessive disorder caused by defects in the mitochondrial ribosomal protein S22, a component of the small mitoribosomal subunit essential for mitochondrial translation. Of the few reported cases, most present antenatally with a severe phenotype, conveying a poor prognosis ...
Liana N. Semcesen, Megan Ball, Daniella H. Hock, Juliet Kaye, Aimee Woods, Lucas De Jong, MitoMDT Diagnostic Network for Genomics and Omics, David R. Thorburn, Aleksandra Filipovska, Michael T. Ryan, David A. Stroud, Diana Stojanovski, David Coman, Sean Murray, Ryan L. Davis, John Christodoulou, Suzanne C. E. H. Sallevelt, Roula Ghaoui, Cas Simons, Stefan J. Siira, Shanti Balasubramaniam, Alison G. Compton, Daniel G. MacArthur, Nicole J. Lake, Drago Bratkovic, Joy Lee, Maina Kava, Amanda Samarasinghe, Yoni Elbaum, Catherine Atthow, Pauline McGrath, Tegan Stait, Rocio Rius, Liana N. Semcesen, Megan Ball, Daniella Hock, Luke E. Formosa, Ellenore M. Martin, Madeleine Harris, John Christodoulou, David R. Thorburn, Alison G. Compton, David A. Stroud, Jan Liebelt   +43 more
wiley   +1 more source

Brain morphometry and cognition in late-onset glutaric aciduria type 1: scoping review and novel insights from a case report. [PDF]

Neurol Sci
Veronelli L, Commone A, Botti M, Remida P, Grande E, Vallar G, Parini R.   +6 more
europepmc   +1 more source

Evaluating the Effects of Diazinon on Hepatic Glutathione Levels in Rats and Protective Roles of Selenium and L-Carnitine [PDF]

, 2012
Mohammad Shokrzadeh, Nematollah Ahangar, Mohammad Abdollahı, Amir Shadboorestan, Mahmoud Omidi, Sakineh Sadat Hosseini payam   +5 more
openalex  

A Novel 9‐Channel 1H, 3‐Channel 31P Radiofrequency Coil for Interleaved Multinuclear Studies of Human Calf Muscle at 7 T

Magnetic Resonance in Medicine, Volume 95, Issue 5, Page 3008-3020, May 2026.
ABSTRACT Purpose To develop a double‐tuned calf coil with excellent 1H and 31P performance to study muscle physiology by interleaved 1H/31P MRS and parallel imaging at 7 T. Methods The coil combines three 1H transceive dipoles, six 1H receive‐only loops and three 31P transceive loops, arranged in a nested, half‐cylindrical layout.
Veronika Cap, Vasco Rafael Rocha dos Santos, Kostiantyn Repnin, Onisim Soanca, Elmar Laistler, Peter Wolf, Graham J. Kemp, Roberta Frass‐Kriegl, Martin Meyerspeer   +8 more
wiley   +1 more source

CA IX Inhibition by a Sulfonamide Compound: A Therapeutic Approach Against Breast Cancer. [PDF]

Chem Biodivers
Akmese S, Temiz E, Gürel E, Koyuncu I, Durgun M, Guldur ME, Egi K, Ozerol B.   +7 more
europepmc   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Peroxisome deficiency impacts metabolites of lysine, lipid, and polyamine metabolism in Saccharomyces cerevisiae. [PDF]

Histochem Cell Biol
Kosir T, Malheiro DBA, Johnsen LG, Das H, Warscheid B, Danielsen M, van der Klei IJ.   +6 more
europepmc   +1 more source

Efficacy of oral roxadustat combined with L-carnitine for dialysis-induced anemia in patients with chronic renal failure

Chun Zhang, Liutong Shang, Lianqing An, Wei Liu, Yajun Zhang, Zhenjiang Liu   +5 more
openalex   +2 more sources

Lysine, a Precursor of Carnitine in the Rat

, 1971
Vichai Tanphaichitr, Donald W. Horne, Harry P. Broquist   +2 more
openalex   +1 more source

Use of Pentoxifylline to Improve Seminal Parameters in Dogs

Veterinary Medicine and Science, Volume 12, Issue 3, May 2026.
A single oral dose of pentoxifylline (10 mg/kg) administered 40 min before ejaculation significantly improved sperm concentration and progressive motility in dogs. The effect was most pronounced in oligospermic subjects, supporting pentoxifylline as a rapid, well‐tolerated adjunct therapy for canine subfertility .
Vincenzo Cicirelli, Matteo Burgio, Lorenza Frattina, Francesco Caprio, Domenico Robbe, Federica Ariu, Annalisa Rizzo   +6 more
wiley   +1 more source