Molecular Genetics and Metabolism

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Glycogen storage disease type II in Spanish patients: High frequency of c.1076-1G>C mutation
Molecular Genetics and Metabolism - Tập 92 - Trang 183-187 - 2007
Laura Gort, M. Josep Coll, Amparo Chabás
Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies
Molecular Genetics and Metabolism - Tập 106 - Trang 18-24 - 2012
Autumn L. Fletcher, Mark E. Pennesi, Cary O. Harding, Richard G. Weleber, Melanie B. Gillingham
Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detraining
Molecular Genetics and Metabolism - Tập 117 - Trang 120-128 - 2016
Harrison N. Jones, Kelly D. Crisp, Randall R. Robey, Laura E. Case, Richard M. Kravitz, Priya S. Kishnani
Development of clinical guidelines for inborn errors of metabolism: Commentary
Molecular Genetics and Metabolism - Tập 108 - Trang 203-205 - 2013
Jerry Vockley, Kimberly A. Chapman, Georgianne L. Arnold
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH
Molecular Genetics and Metabolism - Tập 96 - Trang 97-105 - 2009
Oleg A. Shchelochkov, Fang-Yuan Li, Michael T. Geraghty, Renata C. Gallagher, Johan L. Van Hove, Uta Lichter-Konecki, Paul M. Fernhoff, Sara Copeland, Tyler Reimschisel, Stephen Cederbaum, Brendan Lee, A. Craig Chinault, Lee-Jun Wong
Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations
Molecular Genetics and Metabolism - Tập 133 - Trang 222-229 - 2021
Charles-Joris Roux, Giulia Barcia, Manuel Schiff, Marie Sissler, Raphaël Levy, Volodia Dangouloff-Ros, Isabelle Desguerre, Shimon Edvardson, Orli Elpeleg, Agnès Rötig, Arnold Munnich, Nathalie Boddaert
Altered DNA methylation in PAH deficient phenylketonuria
Molecular Genetics and Metabolism - Tập 115 - Trang 72-77 - 2015
Steven F. Dobrowolski, James Lyons-Weiler, Kayla Spridik, Amy Biery, Jane Breck, Jerry Vockley, Svetlana Yatsenko, Tamanna Sultana
Association of the BDNF Val66Met variation with obesity in women
Molecular Genetics and Metabolism - Tập 95 - Trang 110-112 - 2008
Sigri Beckers, Armand Peeters, Doreen Zegers, Ilse Mertens, Luc Van Gaal, Wim Van Hul
Evidence for Alternate Galactose Oxidation in a Patient with Deletion of the Galactose-1-Phosphate Uridyltransferase Gene
Molecular Genetics and Metabolism - Tập 72 - Trang 316-321 - 2001
Gerard T. Berry, Nancy Leslie, Robert Reynolds, Claire T. Yager, Stanton Segal
Cell-based therapies for metabolic liver disease
Molecular Genetics and Metabolism - Tập 95 Số 1-2 - Trang 3-10 - 2008
Gregory M. Enns, Maria T. Millan
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