Results 101 to 110 of about 10,400 (184)

Temporal and interanimal variation in bloodspot acylcarnitine and amino acid profiles in relation to conventional metabolites and hormones in Holstein dairy cows

Journal of Dairy Science
: The transition from late gestation to early lactation in dairy cows involves dynamic metabolic adaptations orchestrated by homeorhetic mechanisms, including hepatic fatty acid and AA metabolism.
Pius Lutakome, Stijn Heirbaut, Muluken Mulat Girma, Mingqi Zhang, Xiaoping Jing, Karolien Hertogs, Katleen Geerinckx, Els Stevens, Ben Aernouts, Leen Vandaele, Denis Asizua, Fred Kabi, Veerle Fievez   +12 more
doaj   +1 more source

Acylcarnitine ratio indices in diagnosing carnitine-acylcarnitine translocase deficiency in newborns

Translational Pediatrics, 2023
Tan, Yifei, Wang, Ling, Qi, Xiaoying, Feng, Qingbo, Luo, Hong   +4 more
openaire   +2 more sources

Epilepsy Phenotype and EEG Finding of Rhythmic High‐Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Succinate dehydrogenase (SDH) serves a dual function as complex II of the electron transport chain and an enzyme of the tricarboxylic acid cycle. Pathogenic variants in subunits of SDH result in diverse clinical presentations, including typically autosomal recessive neurodegenerative disorders. Biallelic variants in the SDHA subunit most often
Aaron B. Bowen, Chiadika Nwanze, Cesar Alves, Lance Rodan, Anna Lecticia Pinto, Melissa A. Walker, Irina Anselm, Phillip L. Pearl   +7 more
wiley   +1 more source

Mitochondrial Dysfunction in Propionic Acidemia: A Case‐Report and Review of the Literature

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Propionic acidemia is an inborn error of metabolism involving an enzymatic defect of propionyl‐CoA carboxylase that results in the build‐up of toxic metabolites which can induce metabolic decompensation. Secondary mitochondrial dysfunction in propionic acidemia has been commonly recognized; however, its clinical presentation and management are
Brandon K. Walther, Brittany M. Murray, Poornima Pandiyan, Randall Ray, Laura Yeoh, Amy Kritzer   +5 more
wiley   +1 more source

Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Carbonic anhydrase VA (CAVA) deficiency (OMIM 114761) is an ultra‐rare inborn error of metabolism with fewer than 20 cases described. Affected infants present in the first days of life with hyperammonaemia, lactic acidosis, ketonaemia and encephalopathy.
Sophie Manoy, Tahlee Minto, Kalliope Demetriou, Matthew Lynch, Arthavan Selvanathan, Luke Jardine, Michelle Lipke, Carolyn Bursle, Anita Inwood, Jim McGill, David Coman   +10 more
wiley   +1 more source

Long-chain acylcarnitine deficiency promotes hepatocarcinogenesis

Acta Pharmaceutica Sinica B
Despite therapy with potent antiviral agents, chronic hepatitis B (CHB) patients remain at high risk of hepatocellular carcinoma (HCC). While metabolites have been rediscovered as active drivers of biological processes including carcinogenesis, the specific metabolites modulating HCC risk in CHB patients are largely unknown.
Kaifeng Wang, Zhixian Lan, Heqi Zhou, Rong Fan, Huiyi Chen, Hongyan Liang, Qiuhong You, Xieer Liang, Ge Zeng, Rui Deng, Yu Lan, Sheng Shen, Peng Chen, Jinlin Hou, Pengcheng Bu, Jian Sun   +15 more
openaire   +3 more sources

Clinical Outcomes and Management in Late Diagnosed Siblings Affected With Attenuated GSD Ib

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Glycogen storage disease 1b (GSD1b) typically presents in early infancy with poor fasting tolerance, hepatomegaly, and neutropenia. We report two siblings who were diagnosed with GSD1b in adulthood. Both had a normal fasting tolerance throughout childhood and, as adults, were able to fast for at least 16 h without developing hypoglycaemia. The
Gregory Lynch, Alison Woodall, Charlotte Dawson, Philip Newsome, Maria Veiga‐da‐Cunha, Karolina M. Stepien   +5 more
wiley   +1 more source

Electrokinetic Manipulations Combined With Direct and Ambient Ionization Mass Spectrometry

Mass Spectrometry Reviews, Volume 45, Issue 2, Page 244-259, March/April 2026.
ABSTRACT Mass spectrometry (MS) is a powerful analytical technique that typically involves sample preparation and online analytical separation before MS detection. Traditional methods often face bottlenecks in sample preparation and analytical separation, despite the rapid detection capabilities of MS.
Nicholas E. Manicke, Lahiru Wedasingha, Magnus Rydberg   +2 more
wiley   +1 more source

Practical Applications of Secondary/Extractive Electrospray Ionization (SESI): A Versatile Tool for Real‐Time Chemical Analysis

Mass Spectrometry Reviews, Volume 45, Issue 2, Page 392-428, March/April 2026.
ABSTRACT In the 1980s, researchers discovered the remarkable ability of electrospray plumes to effectively ionize gas‐phase molecules via secondary ionization. Around 20 years later—coinciding with the ambient mass spectrometry revolution—secondary electrospray ionization (SESI) and extractive electrospray ionization (EESI) coupled to mass spectrometry
Xin Luo, Huiling Wang, Xiaolan Hu, Sasho Gligorovski, Xue Li, Pablo Sinues   +5 more
wiley   +1 more source

Trans‐Omics Integration Reveals That the Kidney Contributes to Systemic Aging via Sexually Dimorphic Accumulation of Glycosphingolipids

MedComm, Volume 7, Issue 3, March 2026.
Female‐specific renal GluCer accumulation disrupts mitochondrial quality control via a conserved purine‐mTORC1 pathway, triggering a wave of uremic toxins into the systemic circulation that constitutes a female‐biased vulnerability toward renal‐driven multiorgan senescence.
Zhen Ni, Chenyin Cao, Yanlin Tian, Jinming Mu, He Tian, Zehua Wang, Shaohua Zhang, Mingjun Cao, Yuntian Yang, Wei Ling Florence Lim, Jingkang Cui, Huan Sun, Huan Miao, Yuan Wang, Jie Du, Timothy Kwok, Huan Chen, Sin Man Lam, Guanghou Shui   +18 more
wiley   +1 more source