Results 281 to 290 of about 38,522 (353)

Health-related quality of life and caregiver burden of pediatric patients with inborn errors of metabolism in Japan using EQ-5D-Y, PedsQL, and J-ZBI. [PDF]

Qual Life Res
Konomura K, Numakura C, Nakamura-Utsunomiya A, Hoshino E, Tajima G, Kobayashi H, Nakamura K, Shimozawa N, Bo R, Shiroiwa T, Shigematsu Y, Fukuda T.   +11 more
europepmc   +1 more source

Microbial diversity and function in the rhizosphere microbiome: Driving forces and monitoring approaches

Agrosystems, Geosciences &Environment, Volume 8, Issue 3, September 2025.
Abstract As an ecological unit, the rhizosphere microbiome preserves an enormous and largely unexplored diversity of microbes that play essential roles in plant health and soil functions. Omics technologies encompassing high‐throughput approaches such as metagenomics, metatranscriptomics, and metaproteomics provide helpful tools to unravel the ...
Chinenyenwa Fortune Chukwuneme, Olubukola Oluranti Babalola   +1 more
wiley   +1 more source

Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey. [PDF]

Int J Neonatal Screen
Belaramani KM, Chan TCH, Hau EWL, Yeung MCW, Kwok AMK, Lo IFM, Law THF, Wu H, Wong SSN, Lam SW, Ha GHY, Lau TPY, Wong TK, Or VWC, Wong RMS, Ming WL, Chow JCK, Yau EKC, Fu A, Chong JSC, Yau HC, Poon GWK, Ng KL, Chan KT, Lam YY, Hui J, Mak CM, Fung CW.   +27 more
europepmc   +1 more source

Parental Specific Expression by scRNA‐Seq Reveals HaWRKY40 Contributing to Heterosis of Sunflower

Plant Biotechnology Journal, EarlyView.
Yuliang Han, Juncheng Zhang, Maohong Cai, Siqi Zhang, Wenting Dai, Zhonghua Lei, Qixiu Huang, Lijun Xiang, Tao Chen   +8 more
wiley   +1 more source

Did Down‐Regulated Instincts Enable Human Gene‐Culture Coevolution?

Evolutionary Anthropology: Issues, News, and Reviews, Volume 34, Issue 3, September 2025.
ABSTRACT The unique intellectual and cultural attributes of Homo sapiens that arose during the Middle Stone Age are often ascribed to positive evolutionary development of novel physical or personality traits, but attempts to correlate cultural with genetic evolution have been unsuccessful.
Gerald E. Loeb
wiley   +1 more source

Judd Lecture - Portal hepatotrophic factors: A century of controversy [PDF]

, 1975
Starzl, TE
core  

Personalized Genotype‐Based Approach for Treatment of Phenylketonuria

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
Modeling the residual enzyme activity of PAH genotypes allows for personalized prediction of patient phenotype and BH4‐treatment response. ABSTRACT Extensive studies have examined the clinical manifestations, pathogenic mechanisms, and genetic variations of phenylketonuria (PKU) across different populations, resulting in a substantial collection of ...
Polina Gundorova, Behnam Yousefi, Mathias Woidy, Malcolm Summer Rose‐Heine, Robin Khatri, Viviane Kasten, Stefan Bonn, Ania Carolina Muntau, Soeren Waldemar Gersting   +8 more
wiley   +1 more source

Effectiveness of Pyridoxal‐5′‐Phosphate in PNPO Deficiency: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Pyridox(am)ine 5′‐phosphate oxidase (PNPO) deficiency is an ultrarare inherited neurometabolic disease, characterized by primarily neonatal‐onset B6‐responsive epileptic encephalopathies. Treatment often requires sustainable access to high‐quality pyridoxal‐5′‐phosphate (PLP, i.e., active vitamin B6), although some patients (also) respond to ...
Nina N. Stolwijk, Laura van Dussen, Niels D. Reijnhout, Marion M. M. G. Brands, Bregje Jaeger, Peter T. Clayton, Carla E. M. Hollak, Annet M. Bosch   +7 more
wiley   +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

History of liver and other splanchnic organ transplantation [PDF]

, 1996
Starzl, TE
core