Screening for inherited metabolic disease in newborn infants using tandem mass spectrometry : Further assessment of performance and outcome is needed

অনুযায়ী Leonard, James V, Dezateux, Carol
প্রকাশিত 2002

Object-oriented simulation reusability, adaptability, maintainability /

অনুযায়ী Zobrist, George W., Leonard, James V.
প্রকাশিত c1997

Recommendations for the management of tyrosinaemia type 1

অনুযায়ী de Laet, Corinne, Dionisi-Vici, Carlo, Leonard, James V, McKiernan, Patrick, Mitchell, Grant, Monti, Lidia, de Baulny, Hélène Ogier, Pintos-Morell, Guillem, Spiekerkötter, Ute
প্রকাশিত 2013

Mitochondrial DNA Depletion Syndrome is Expressed in Amniotic Fluid Cell Cultures

অনুযায়ী Blake, Julian C., Taanman, Jan-Willem, Morris, Andrew M. M., Gray, R. George F., Cooper, J. Mark, McKiernan, Patrick J., Leonard, James V., Schapira, Anthony H. V.
প্রকাশিত 1999

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

অনুযায়ী Broomfield, Alexander, Sweeney, Mary G., Woodward, Cathy E., Fratter, Carl, Morris, Andrew M., Leonard, James V., Abulhoul, Lara, Grunewald, Stephanie, Clayton, Peter T., Hanna, Michael G., Poulton, Joanna, Rahman, Shamima
প্রকাশিত J Inherit Metab Dis (2014)

Molecular genetic study of human arginase deficiency

অনুযায়ী Grody, Wayne W., Klein, Deborah, Dodson, Amy E., Kern, Rita M., Wissmann, Paul B., Goodman, Barbara K., Bassand, Patrick, Marescau, Bert, Kang, Soo-Sang, Leonard, James V., Cederbaum, Stephen D.
প্রকাশিত 1992

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

অনুযায়ী Ferdinandusse, Sacha, Waterham, Hans R, Heales, Simon JR, Brown, Garry K, Hargreaves, Iain P, Taanman, Jan-Willem, Gunny, Roxana, Abulhoul, Lara, Wanders, Ronald JA, Clayton, Peter T, Leonard, James V, Rahman, Shamima
প্রকাশিত Orphanet J Rare Dis (2013)

A Missense Mutation of Cytochrome Oxidase Subunit II Causes Defective Assembly and Myopathy

অনুযায়ী Rahman, Shamima, Taanman, Jan-Willem, Cooper, J. Mark, Nelson, Isabelle, Hargreaves, Ian, Meunier, Brigitte, Hanna, Michael G, García, José J., Capaldi, Roderick A., Lake, Brian D., Leonard, James V., Schapira, Anthony H. V.
প্রকাশিত 1999

Diagnosis and management of glutaric aciduria type I – revised recommendations

অনুযায়ী Kölker, Stefan, Christensen, Ernst, Leonard, James V., Greenberg, Cheryl R., Boneh, Avihu, Burlina, Alberto B., Burlina, Alessandro P., Dixon, Marjorie, Duran, Marinus, García Cazorla, Angels, Goodman, Stephen I., Koeller, David M., Kyllerman, Mårten, Mühlhausen, Chris, Müller, Edith, Okun, Jürgen G., Wilcken, Bridget, Hoffmann, Georg F., Burgard, Peter
প্রকাশিত 2011