Results 191 to 200 of about 43,342 (295)

Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Molybdenum cofactor deficiency (MoCD) is an inborn error of metabolism included in the differential for refractory neonatal seizures. The prognosis is guarded, with a median reported age of death between 2.4 and 3.0 years. Mortality is primarily due to seizures and lower respiratory tract infections.
Molly M. Crenshaw, Yasmeen Midgette, Shruthi Mohan, Ruhan Wei, Mariele Anneling, Monika Williams, Milap Patel, Benjamin T. Cocanougher, Sarah P. Young, Dmitriy Niyazov, Areeg El‐Gharbawy, Ashlee R. Stiles   +11 more
wiley   +1 more source

Altered carnitine-acylcarnitine profiles in levothyroxine-treated congenital hypothyroid patients with fatigue: An LC-MS/MS-based study from Bangladesh. [PDF]

PLoS One
Begum MN, Sarker SK, Islam MT, Bhuyan GS, Mahtarin R, Patwary MH, Konika TK, Qadri SK, Ahmed T, Banu H, Sultana N, Rahat A, Shyamaly KJ, Bhuiyan TR, Hasan M, Hasanat MA, Sajib AA, Islam ABMMK, Mannoor K, Akhteruzzaman S, Qadri F.   +20 more
europepmc   +1 more source

Reversing Acute Cardiomyopathy With Coenzyme Q10 Supplementation in Cobalamin B Disease: A Case Report and Literature Review

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Methylmalonic acidemia (MMA) is a rare metabolic disorder with various subtypes, including Cobalamin B (cblB) disease. While cardiac complications are well‐documented in propionic acidemia, their occurrence in MMA is less understood. Here, we report a 12‐year‐old child with cblB disorder who developed acute cardiomyopathy (CM).
Dalia Said, Aisha Al Shamsi
wiley   +1 more source

Altered Carnitine Metabolism in Ischemic and Non-Ischemic Cardiomyopathy: A Comparative Metabolomics Study Using LC-MS/MS. [PDF]

Metabolites
Behram Kandemir Y, Güntekin Ü, Tosun V, Koyuncu İ, Yüksekdağ Ö.   +4 more
europepmc   +1 more source

Navigating Solute Carrier Transporters—A Comprehensive Review of Functionalized Small Molecule Probes for Target Identification and Characterization

Medicinal Research Reviews, Volume 46, Issue 1, Page 238-271, January 2026.
ABSTRACT Solute carrier transporters (SLCs) are integral membrane proteins that play pivotal roles in maintaining cellular homeostasis by mediating the transport of a diverse range of substrates across cell membranes. With their involvement in fundamental physiological processes such as nutrient uptake, neurotransmitter signaling, and drug transport ...
Majlen A. Dilweg, Tracie Widjaja, Adriaan P. IJzerman, Daan van der Es   +3 more
wiley   +1 more source

Serum acylcarnitines profile at ICU discharge to predict mid-term muscle outcomes: an exploratory study. [PDF]

Front Med (Lausanne)
Rousseau AF, Farnir F, Cavalier E, Luis G, Kellens I, Lambermont B, Boemer F.   +6 more
europepmc   +1 more source

Partial Replacement of Maltodextrin With Galactose in Post‐Weaning Diets of Mice Alters Body Composition and Energy Metabolism in Early‐Life and Programs Hepatic Igf1 Expression in Later‐Life

Molecular Nutrition &Food Research, Volume 70, Issue 1, January 2026.
Galactose‐containing post‐weaning diets given for 3 weeks decreased body weight and changed energy metabolism compared to a maltodextrin‐enriched control diet in the early life of mice. After following 9 weeks of a high‐fat diet intervention, the mice fed in the early life the galactose‐containing diets had no obvious nutritional programming effects ...
Peixin Sun, Maryam Rakhshandehroo, Melissa Bekkenkamp‐Grovenstein, Lidewij Schipper, Jaap Keijer, Evert M. van Schothorst   +5 more
wiley   +1 more source

Carnitine Deficiency in Rehabilitation Ward Individuals and its Association With Activities of Daily Living: A Pilot Retrospective Observational Study. [PDF]

Arch Rehabil Res Clin Transl
Ueno M, Kawamura K, Ohama R, Shigenobu K, Ogura T, Shimodozono M.   +5 more
europepmc   +1 more source

Chirality‐Directed Strategy to Overcome Tumor Resistance to Cuproptosis and Enhance Cuproptosis‐Immunotherapy

Small Structures, Volume 7, Issue 1, January 2026.
Chirality‐directed strategy designed by copper‐based nanoregulator (Cu‐D‐Car@HA) to potentiate collaborative cuproptosis‐immunotherapy by overcoming tumor resistance to cuproptosis highlights a materials‐based method for superior cuproptosis‐immunotherapy.
Hao Zhou, Xiaoyang Zhang, Yu‐Zhang Wang, Shi‐Man Zhang, Hong Chen, Xiao Yan, Chi‐Hui Yang, Wei‐Hai Chen, Xian‐Zheng Zhang   +8 more
wiley   +1 more source

L-Carnitine Attenuates Testicular Dysfunction in Type 1 Diabetes Mellitus Via Modulation of Oxidative Stress, Inflammation, and miRNA Expression. [PDF]

Inflammation
Mustafa HK, Rasul KH, Abdulrahman AS, Awla HK, Moshari S, Khidir KA.   +5 more
europepmc   +1 more source