Molecular Genetics and Metabolism

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The obese phenotype-inducing N82K mutation in human leptin disrupts receptor-binding and biological activity
Molecular Genetics and Metabolism - Tập 100 - Trang 193-197 - 2010
Leonora Niv-Spector, Michal Shpilman, Asaf Grupi, Arieh Gertler
Pain and fatigue associated with generalized joint hypermobility in Gaucher disease
Molecular Genetics and Metabolism - Tập 126 - Trang S97 - 2019
Farrah R. Mahan, Laurie Bailey, Valentina Pilipenko, Carlos Prada
Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: Evidence that N370S is a folding mutant
Molecular Genetics and Metabolism - Tập 106 - Trang 323-329 - 2012
Gholamreza Babajani, Michael B. Tropak, Don J. Mahuran, Allison R. Kermode
Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain
Molecular Genetics and Metabolism - Tập 106 - Trang 196-201 - 2012
Sonia Pajares, Carlos Alcalde, MªLuz Couce, Mireia Del Toro, Antonio González-Meneses, Encarna Guillén, Mercè Pineda, Guillem Pintos, Laura Gort, MªJosé Coll
Spontaneous development of intestinal and colonic atrophy and inflammation in the carnitine-deficient jvs (OCTN2−/−) mice
Molecular Genetics and Metabolism - Tập 92 - Trang 315-324 - 2007
Prem S. Shekhawat, Sonne R. Srinivas, Dietrich Matern, Michael J. Bennett, Richard Boriack, Varghese George, Hongyan Xu, Puttur D. Prasad, Penny Roon, Vadivel Ganapathy
Metabolic derangement of methionine and folate metabolism in mice deficient in methionine synthase reductase
Molecular Genetics and Metabolism - Tập 91 - Trang 85-97 - 2007
C. Lee Elmore, Xuchu Wu, Daniel Leclerc, Erica D. Watson, Teodoro Bottiglieri, Natalia I. Krupenko, Sergey A. Krupenko, James C. Cross, Rima Rozen, Roy A. Gravel, Rowena G. Matthews
WITHDRAWN: 80 Alternative dosing regimens of agalsidase alfa (Replagal®) in Fabry disease
Molecular Genetics and Metabolism - - 2007
J. Bultas, Joseph Clarke, M. Askari, M. West, R. Schiffmann
Does the 48-hour BH4 loading test miss responsive PKU patients?
Molecular Genetics and Metabolism - Tập 129 - Trang 186-192 - 2020
Annemiek M.J. van Wegberg, Roeland A.F. Evers, Esther van Dam, Maaike C. de Vries, Mirian C.H. Janssen, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen
Functional and metabolic implications of biotin deficiency for the rat heart
Molecular Genetics and Metabolism - Tập 95 - Trang 213-219 - 2008
Antonio Velázquez-Arellano, María de la Luz Hernández-Esquivel, Rafael Moreno Sánchez, Daniel Ortega-Cuellar, Nayeli Rodríguez-Fuentes, Saúl Cano, Alfonso León-Del-Río, Karla Carvajal
Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency
Molecular Genetics and Metabolism - Tập 108 - Trang 232-240 - 2013
Beatriz Puisac, María Esperanza Teresa-Rodrigo, María Arnedo, María Concepción Gil-Rodríguez, Celia Pérez-Cerdá, Antonia Ribes, Ángeles Pié, Gloria Bueno, Paulino Gómez-Puertas, Juan Pié
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