ScholarIQanswers from OpenAlex
Molecular Genetics and Metabolism
JournalCitation impact & published research
Molecular Genetics and Metabolism is a journal indexed in ScholarIQ from OpenAlex.
What is the OpenAlex record for Molecular Genetics and Metabolism?
ScholarIQopenalex
The OpenAlex for Molecular Genetics and Metabolism is on the source record.
What are the most-cited papers on Molecular Genetics and Metabolism?
ScholarIQmost cited works
Fabry disease revisited: Management and treatment recommendations for adult patients
Alberto Ortíz, Dominique P. Germain, Robert J. Desnick, Juan Politei, Michael Mauer, Alessandro P. Burlina, Christine M. Eng, Robert J. Hopkin, Dawn A. Laney, Aleš Linhart, Stephen Waldek, Eric Wallace, Frank Weidemann, William R. Wilcox
A Common Variant in Methionine Synthase Reductase Combined with Low Cobalamin (Vitamin B12) Increases Risk for Spina Bifida
Aaron Wilson, Robert W. Platt, Qing Wu, Daniel Leclerc, Benedicte Christensen, Hong Yang, Roy A. Gravel, Rima Rozen
Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria
Barbara K. Burton, Kyle Bradford Jones, Stephen D. Cederbaum, Fran Rohr, Susan E. Waisbren, Debra E. Irwin, Gilwan Kim, Joshua Lilienstein, Ignacio Alvarez, Elaina Jurecki, Harvey L. Levy
A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient
Inas Mazen, Mona El Gammal, Mohamed S. Abdel‐Hamid, Khalda Amr
Expanded newborn screening identifies maternal primary carnitine deficiency
Lisa A. Schimmenti, Eric Crombez, Bernd Schwahn, Bryce A. Heese, Timothy C. Wood, Richard J. Schroer, Kristi Bentler, Stephen Cederbaum, Kiki Sarafoglou, Mark McCann, Piero Rinaldo, Dietrich Matern, Cristina Amat Di San Filippo, Marzia Pasquali, Susan A. Berry, Nicola Longo