Molecular Genetics and Metabolism

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Effects of 6-O-α-maltosyl-β cyclodextrin on lipid metabolism in Npc1-deficient Chinese hamster ovary cells
Molecular Genetics and Metabolism - Tập 137 - Trang 239-248 - 2022
By Yasuyo Okada, Sayako Kuroiwa, Ayaka Noi, Ayaka Tanaka, Junichi Nishikawa, Yuki Kondo, Yoichi Ishitsuka, Tetsumi Irie, Katsumi Higaki, Muneaki Matsuo, Atsushi Ichikawa
Ocular disease in the cobalamin C defect: A review of the literature and a suggested framework for clinical surveillance
Molecular Genetics and Metabolism - Tập 114 - Trang 537-546 - 2015
James D. Weisfeld-Adams, Emily A. McCourt, George A. Diaz, Scott C. Oliver
Clinical and biochemical footprints of inherited metabolic diseases. XIII. Respiratory manifestations
Molecular Genetics and Metabolism - Tập 140 - Trang 107655 - 2023
Alessandro Rossi, Simona Basilicata, Melissa Borrelli, Carlos R. Ferreira, Nenad Blau, Francesca Santamaria
Targeting Tumor Angiogenesis with Gene Therapy
Molecular Genetics and Metabolism - Tập 74 - Trang 120-127 - 2001
Qing-Rong Chen, Lei Zhang, Warren Gasper, A.James Mixson
Crystal structure of a mutant glycosylasparaginase shedding light on aspartylglycosaminuria-causing mechanism as well as on hydrolysis of non-chitobiose substrate
Molecular Genetics and Metabolism - Tập 121 - Trang 150-156 - 2017
Suchita Pande, Damodharan Lakshminarasimhan, Hwai-Chen Guo
Newborn screening in Spain, with particular reference to Galicia: Echoes of Louis I. Woolf
Molecular Genetics and Metabolism - Tập 101 - Trang 95-98 - 2010
J.R. Alonso-Fernández, C. Colón
N-myc oncogene expression in neuroblastoma is driven by Sp1 and Sp3
Molecular Genetics and Metabolism - Tập 80 - Trang 272-280 - 2003
Matthew C Tuthill, Randal K Wada, Jason M Arimoto, Christine N Sugino, Kelli K Kanemaru, Kenneth K Takeuchi, Neil Sidell
Site-Directed Mutations in the FAD-Binding Domain of Glycerophosphate Dehydrogenase: Catalytic Defects with Preserved Mitochondrial Anchoring of the Enzyme in Transfected COS-7 Cells
Molecular Genetics and Metabolism - Tập 75 - Trang 168-173 - 2002
Monica Gudayol, Marta E. Fabregat, Joanne Rasschaert, Abdullah Sener, Willy J. Malaisse, Ramon Gomis
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS
Molecular Genetics and Metabolism - Tập 120 - Trang 378-383 - 2017
Melanie M. Bryan, Nathanial J. Tolman, Karen L. Simon, Marjan Huizing, Robert B. Hufnagel, Brian P. Brooks, Vladislav Speransky, James C. Mullikin, William A. Gahl, May Christine V. Malicdan, Bernadette R. Gochuico
Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion
Molecular Genetics and Metabolism - Tập 119 - Trang 91-99 - 2016
Ashlee R. Stiles, Mariella T. Simon, Alexander Stover, Shaya Eftekharian, Negar Khanlou, Hanlin L. Wang, Shino Magaki, Hane Lee, Kate Partynski, Nagmeh Dorrani, Richard Chang, Julian A. Martinez-Agosto, Jose E. Abdenur
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