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61-70 trong số 137 kết quả
Analysis of serum oligosaccharides by UPLC-MS/MS for diagnosis and treatment monitoring of patients with alpha-mannosido...
Tác giả: Francyne Kubaski, Allison Cason, Zackary Ari M Herbst, Sandhya Kharbanda, Troy C Lund, Paul J Orchard, Laura Pollard
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc: 
 
Metabolic and proteomic profiles provide insights on mechanism of late onset Pompe disease
Tác giả: Yuxuan Lu, Jianwen Deng, Qing Peng, Jiayu Tian, Zhaoxia Wang, Meng Yu, Yun Yuan, Wei Zhang
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc: 
 
Brain morphometric analysis in patients with glutaric aciduria type 1
Tác giả: BingYang Bian, Dan Li, ChengXiang Liu, Peng Liu, ZhuoHang Liu, Pu Tian, Lei Zhang, XiaoNa Zhu
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc: 
 
Bone mineral density in French adults with early-treated phenylketonuria
Tác giả: Elisa Dybal, Jean-Baptiste Arnoux, Leonardo Astudillo, Sybil Charrière, Claire Douillard, François Feillet, Alain Fouilhoux, Claire Gay, Alice Kuster, Christian Lavigne, Vanessa Leguy-Seguin, François Maillot, Karin Mazodier, Sylvie Odent, Vincent Rigalleau, Manuel Schiff, Christel Thauvin-Robinet
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc: 
 
Causes of mortality in the congenital disorders of glycosylation
Tác giả: Hana Alharbi, Andrew C Edmondson, Seishu Horikoshi, Sabrina Malone Jenkins, Christina Lam, Austin Larson, Eva Morava, Fernando Scaglia
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc: 
 
SGLT2 inhibitors for periodontitis in glycogen storage disease
Tác giả: M Langeveld, B M Balfoort, S B Wortmann
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc: 
 
Retrospective review of urine organic acids data from patients with citrullinemia type I - Looking for the 'cyclic deriv...
Tác giả: Stephen A Brose, Judith A Hobert
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc: 
 
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: 
 

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