Molecular Genetics and Metabolism

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99. Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann–Pick C1 disease
Molecular Genetics and Metabolism - Tập 99 Số 2 - Trang S28 - 2010
Daniel S. Ory, Forbes D. Porter, David E. Scherrer, M Lanier, S. Joshua Langmade, Vasumathi Molugu, Sarah E. Gale, Dana Olzeski, Rohini Sidhu, Christopher A. Wassif, Nicole M. Yanjanin, Jean E. Schaffer
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations
Molecular Genetics and Metabolism - Tập 128 - Trang 358-362 - 2019
Yedidyah Weiss, Manisha Balwani, Brenden Chen, Makiko Yasuda, Irina Nazarenko, Robert J. Desnick
Prevalence of lymphedema among Anderson-Fabry disease patients: A report from the Fabry registry
Molecular Genetics and Metabolism - Tập 138 - Trang 107538 - 2023
Deya Alkhatib, Jesus Avila Vega, Issa Pour-Ghaz, Omar Al-Taweel, Sania Khan, Kimberly DeCarr, Anandbir Bath, Aranyak Rawal, David Wilbanks, Joel Raja, Asra Butt, Neeraja Yedlapati, Robert J. Hopkin, John L. Jefferies
A case of a 39-year-old man with novel mutation and classic Fabry disease who showed different changes of several biomarkers and speckle tracking after enzyme replacement therapy
Molecular Genetics and Metabolism - Tập 126 - Trang S84 - 2019
Gee-Hee Kim
Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation
Molecular Genetics and Metabolism - Tập 103 - Trang 153-160 - 2011
Gary Fruhman, Megan L. Landsverk, Timothy E. Lotze, Jill V. Hunter, Michael F. Wangler, Adekunle M. Adesina, Lee-Jun C. Wong, Fernando Scaglia
Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients
Molecular Genetics and Metabolism - Tập 91 Số 2 - Trang 176-182 - 2007
Rutger O. Vogel, Mariël A.M. van den Brand, Richard J. Rodenburg, L.P.W.J. van den Heuvel, Makoto Tsuneoka, Jan Smeitink, Leo Nijtmans
High follicular phase luteinizing hormone levels in young healthy BRCA1 mutation carriers: Implications for breast and ovarian cancer risk
Molecular Genetics and Metabolism - Tập 86 - Trang 320-327 - 2005
Helena Jernström, Åke Borg, Håkan Olsson
Association of polymorphisms of the osteoprotegerin gene with bone mineral density in Japanese women but not men
Molecular Genetics and Metabolism - Tập 80 - Trang 344-349 - 2003
Yoshiji Yamada, Fujiko Ando, Naoakira Niino, Hiroshi Shimokata
5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics
Molecular Genetics and Metabolism - Tập 129 - Trang 177-185 - 2020
Harvey Levy, Diana Lamppu, Vera Anastosoaie, Jennifer L. Baker, Kevin DiBona, Sarah Hawthorne, Jessica Lindenberger, Deborah Kinch, Albert Seymour, Mark McIlduff, Sharon Watling, Jerry Vockley
Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses
Molecular Genetics and Metabolism - Tập 120 - Trang 247-254 - 2017
Francyne Kubaski, Yasuyuki Suzuki, Kenji Orii, Roberto Giugliani, Heather J. Church, Robert W. Mason, Vũ Chí Dũng, Can Thi Bich Ngoc, Seiji Yamaguchi, Hironori Kobayashi, Katta M. Girisha, Toshiyuki Fukao, Tadao Orii, Shunji Tomatsu
Tổng số: 2,017   
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