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Tìm được 17 kết quả
Emergency Management of Intoxication-Type Inherited Metabolic Disorders
Tác giả: J Dexter Tarr, Andrew A M Morris
Xuất bản: United States: Journal of inherited metabolic disease , 2025
Bộ sưu tập: NCBI
ddc:  658.401
 
Elevated Cerebrospinal Fluid Total Tau in Niemann-Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic Interventions
Tác giả: Niamh X Cawley, Ruyu Zhou, Samar Rahhal, An Dang Do, Elizabeth Berry-Kravis, Stephanie M Cologna, Fang Liu, Forbes D Porter, Nicole M Farhat, James Iben, Derek M Alexander, Rachel A Luke, Cameron J Padilla, Hibaaq O Mohamed, Orsolya K Albert, Kendall P Robbins
Xuất bản: United States: Journal of inherited metabolic disease , 2025
Bộ sưu tập: NCBI
ddc:  553.676
 
Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa)
Tác giả: David A Weinstein, Terry G Derks, Melanie M van der Klauw, Foekje de Boer, Caroline van der Schaaf, Heather Saavedra, Miguel Martínez-Olmos, Elvis Atanga, Asad Hosseini, Deepali Mitragotri, Eric Crombez, David F Rodriguez-Buritica, Ayesha Ahmad, María-Luz Couce, John J Mitchell, Rebecca Riba-Wolman, Malaya Mount, Julieta Bonvin Sallago, Katalin M Ross
Xuất bản: United States: Journal of inherited metabolic disease , 2025
Bộ sưu tập: NCBI
ddc:  364.2
 
Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status
Tác giả: Kendall A Flaharty, Irene J Castillo, Vibha Chandrasekar, Dat Duong, Carlos R Ferreira, Ping Hu, Wendy J Introne, Suzanna Ledgister Hanchard, Francis Rossignol, Benjamin D Solomon, Rebekah L Waikel
Xuất bản: United States: Journal of inherited metabolic disease , 2025
Bộ sưu tập: NCBI
ddc:  553.453
 
Reshaping the Treatment Landscape of a Galactose Metabolism Disorder
Tác giả: M Estela Rubio-Gozalbo, E Naomi Vos, Isabel Rivera, Kent Lai, Gerard T Berry
Xuất bản: United States: Journal of inherited metabolic disease , 2025
Bộ sưu tập: NCBI
ddc:  133.531
 
The Therapeutic Future for Congenital Disorders of Glycosylation
Tác giả: I J J Muffels, T Kozicz, E O Perlstein, E Morava
Xuất bản: United States: Journal of inherited metabolic disease , 2025
Bộ sưu tập: NCBI
ddc:  070.194
 
C1GALT1C1-Associated Mosaic Disorder of Glycosylation in a Female
Tác giả: Rajindra P Aryal, Aditya Ramanujan, Camille Bucci, Christian Neckelmann, Jamie Heimburg-Molinaro, Sandra F Cummings, Florian Erger, Bodo B Beck, Laurie H Seaver, Richard D Cummings
Xuất bản: United States: Journal of inherited metabolic disease , 2025
Bộ sưu tập: NCBI
ddc:  594.38
 
Effectiveness of Kidney Transplantation in Treating Alkaptonuric Skin Ochronosis
Tác giả: Aude Belbézier, Mathilde Tardieu, Nathalie Sturm, Julie Charles, Marie-Thérèse Leccia
Xuất bản: United States: Journal of inherited metabolic disease , 2025
Bộ sưu tập: NCBI
ddc:  133.534
 
Amino Acid Metabolism and Immune Dysfunction in Urea Cycle Disorders: T and B Cell Perspectives
Tác giả: Betul Gemici Karaaslan, Ayca Kiykim, Haluk Cokuğras, Ayse Cigdem Aktuglu Zeybek, Nihan Burtecene, Meltem Gokden, Mehmet Serif Cansever, Duhan Hopurcuoglu, Gökçe Nuran Cengiz, Birol Topcu, Tanyel Zubarioğlu, Ertugrul Kiykim
Xuất bản: United States: Journal of inherited metabolic disease , 2025
Bộ sưu tập: NCBI
ddc:  616.042
 
Amino Acid Metabolism and Immune Dysfunction in Urea Cycle Disorders: T and B Cell Perspectives
Tác giả: Betul Gemici Karaaslan, Ayca Kiykim, Haluk Cokuğras, Ayse Cigdem Aktuglu Zeybek, Nihan Burtecene, Meltem Gokden, Mehmet Serif Cansever, Duhan Hopurcuoglu, Gökçe Nuran Cengiz, Birol Topcu, Tanyel Zubarioğlu, Ertugrul Kiykim
Xuất bản: United States: Journal of inherited metabolic disease , 2025
Bộ sưu tập: NCBI
ddc:  005.722
 
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