Results 181 to 190 of about 39,677 (355)

Genetic diversity and population structure of pedunculate oaks (Quercus robur) in Wytham Woods

PLANTS, PEOPLE, PLANET, EarlyView.
Genetic diversity underpins forest resilience and adaptation, yet centuries of human activity have reshaped woodland ecosystems worldwide. We studied the population genetics of pedunculate oaks (Quercus robur) in Wytham Woods, UK, across stands with different ages and management histories.
Tin Hang Hung, Elias Formaggia, Lucy Morley, Keith Kirby, Roberto Salguero‐Gómez, Ben C. Sheldon, John J. MacKay   +6 more
wiley   +1 more source

Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China. [PDF]

Front Genet
Zhang H, Tian H, Dai W, Zhang L, Guo G, Ding G.   +5 more
europepmc   +1 more source

A pragmatic approach to the diagnosis of inborn errors of metabolism in developing countries. [PDF]

Afr J Lab Med, 2023
Anetor JI, Orimadegun BE, Anetor GO.
europepmc   +1 more source

Predicting Residual 21‐Hydroxylase Enzymatic Activity in Pediatric and Adult Congenital Adrenal Hyperplasia Patients: Towards Individualized Therapy

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Congenital adrenal hyperplasia (CAH) is a genetic disorder characterized by impaired cortisol production and consequent elevated adrenocorticotropic hormone (ACTH): CAH patients often require lifelong hydrocortisone therapy. Disease severity reflects residual 21‐hydroxylase enzyme activity, crucial for cortisol synthesis.
Davide Bindellini, Robin Michelet, Yersultan Mirasbekov, Qizong Lao, Charles Sukin, Wilhelm Huisinga, Deborah P. Merke, Charlotte Kloft   +7 more
wiley   +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

Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options. [PDF]

Cells, 2023
Bremova-Ertl T, Hofmann J, Stucki J, Vossenkaul A, Gautschi M.   +4 more
europepmc   +1 more source

Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause [PDF]

, 2001
Allan Chiaratti de Oliveira, Amélia Miyashiro Nunes dos Santos, Ana María Martins, Vânia D’Almeida   +3 more
openalex   +1 more source

Liver transplantation for inborn errors of metabolism [PDF]

, 1977
Koep, L, Putnam, CW, Starzl, TE
core  

Neural mechanisms and clinical features of anti‐influenza drug‐related psychiatric adverse events

VIEW, EarlyView.
Anti–influenza drugs, while essential, have been increasingly associated with psychiatric adverse events (pAEs). Our study systematically investigated these pAEs by utilizing large pharmacovigilance databases and animal models, thereby revealing key clinical features and underlying neural mechanisms.
Anqi Lin, Tong Jiang, Chaofan Fan, Yihan Gao, Dan Shan, Qingxi Zhang, Kun Huang, Peng Luo, Shuofeng Yuan, Xin Chen   +9 more
wiley   +1 more source

Nutritional Management of Patients with Inborn Errors of Metabolism. [PDF]

Nutrients
Couce ML, Vitoria I.
europepmc   +1 more source