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71-80 trong số 145 kết quả
The ELOVL proteins: Very and ultra long-chain fatty acids at the crossroads between metabolic and neurodegenerative diso...
Tác giả: Enza Ferrero, Alfredo Brusco, David Cheillan, Cecilia Marelli, Frédéric M Vaz
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc: 
 
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy
Tác giả: Francesco Gavazzi, Laura A Adang, Geneviève Bernard, Enrico Bertini, Joshua L Bonkowsky, Teodora Chamova, Brittany Charsar, Nancy J Clegg, Daniel Rocha de Carvalho, Mauricio R Delgado, Hiroshi Doi, Jacqueline A Erler, Angeles Garcia-Cazorla, Eline Hamilton, Guy Helman, Henry Houlden, Albena Jordanova, Naomichi Matsumoto, Kelsee Meyerhoffer, Amytice Mirchi, Kayla Muirhead, Francesco Nicita, Virali Patel, Amy Pizzino, Meredith Sanchez-Castillo, Miyatake Satoko, Johanna Schmidt, Anjana Sevagamoorthy, Justine Shults, Cas Simons, Menno Stellingwerff, Asako Takanohashi, Michelle Teng, Davide Tonduti, Ivailo Tournev, Helia Toutounchi, Marjo S van der Knaap, Adeline L Vanderver, Jingming Wang, Evangeline Wassmer, Dan Williams, Sarah Woidill, Nicole I Wolf
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc: 
 
Kidney involvement in glycogen storage disease type I: Current knowledge and key challenges
Tác giả: Anke Schumann, Skadi Beblo, Sven F Garbade, Matthias Gautschi, Sarah C Grünert, Dorothea Haas, Michel Hochuli, Georg Hoffmann, Petra May, Martin Merkel, Sabine Scholl-Bürgi, Eva Thimm, Natalie Weinhold, Monika Williams, Saskia Wortmann
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc: 
 
A link between baseline neurofilament light chain and primary substrate accumulation in cerebrospinal fluid, and clinica...
Tác giả: Christian Argueta, Mariam Ahmed, Oeystein Roed Brekk, Qihua Feng, Scott R P McDonnell, Luying Pan, Tatiana Plavina, Scarlett Wang, David A H Whiteman
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc: 
 
Exploring the use of the National Institutes of Health Toolbox Cognition Battery with children and adolescents with Pomp...
Tác giả: Gail A Spiridigliozzi, Seung-Hye Jung, Priya S Kishnani, Neha Regmi, Mihaela Stefanescu, Kanecia Zimmerman
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc: 
 
Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United St...
Tác giả: Eric T Rush, Toby Bates, Allison Cox, Guillermo Del Angel, Juan Dong, Robert D Steiner
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc: 
 
Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisys...
Tác giả: Kinsley Belle, Juan Caicedo, Gregory M Enns, Casey A Gifford, Marco H Ji, Ioannis Karakikes, Dwight Koeberl, Alexander Kreymerman, Richard T Lee, Mark Mercola, Stephanie P Muscat, Jamal Nasir, Sandeep Randhawa, Andrew M Schaefer, Robert W Taylor, Nirmal Vadgama, Megan Wong, Edward H Wood, Jill L Young
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc: 
 
The curious case of mitochondrial sirtuin in rewiring breast cancer metabolism: Mr Hyde or Dr Jekyll?
Tác giả: Jesline Shaji Tharayil, Amoolya Kandettu, Sanjiban Chakrabarty
Xuất bản: Netherlands: Biochimica et biophysica acta. Molecular basis of disease , 2025
Bộ sưu tập: NCBI
ddc:  271.6
 
The Disruptions of Sphingolipid and Sterol Metabolism in the Short Fiber of
Tác giả: Huidan Tian, Qiaoling Wang, Xingying Yan, Hongju Zhang, Zheng Chen, Caixia Ma, Qian Meng, Fan Xu, Ming Luo
Xuất bản: Switzerland: International journal of molecular sciences , 2025
Bộ sưu tập: NCBI
ddc:  271.6
 
Modulating lipid metabolism by nanoparticles (NPs)-mediated ACSL3 silencing to inhibit hepatocellular carcinoma growth and metastasis
Tác giả: Linzhuo Huang, Rui Xu, Siyu Chen, Chunhao Lin, Wende Li, Senlin Li, Phei Er Saw, Lei Zhang, Xiaoding Xu
Xuất bản: England: Molecular cancer , 2025
Bộ sưu tập: NCBI
ddc:  594.38
 

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