Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects

Por Knerr, Ina, Weinhold, Natalie, Vockley, Jerry, Gibson, K. Michael
Publicado em 2011

Neuropsychiatric Morbidity in Adolescent and Adult Succinic Semialdehyde Dehydrogenase Deficiency Patients

Por Knerr, Ina, Gibson, K. Michael, Jakobs, Cornelis, Pearl, Phillip L.
Publicado em 2008

An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

Por Knerr, Ina, Zschocke, Johannes, Schellmoser, Stefan, Topf, Hans G, Weigel, Corina, Dötsch, Jörg, Rascher, Wolfgang
Publicado em 2005

bZIP-Type transcription factors CREB and OASIS bind and stimulate the promoter of the mammalian transcription factor GCMa/Gcm1 in trophoblast cells

Por Schubert, Steffen Wolfgang, Abendroth, Alexandra, Kilian, Karin, Vogler, Tina, Mayr, Bernhard, Knerr, Ina, Hashemolhosseini, Said
Publicado em 2008

Neuropathology in Succinic Semialdehyde Dehydrogenase Deficiency

Por Knerr, Ina, Gibson, K. Michael, Murdoch, Geoffrey, Salomons, Gajja S., Jakobs, Cornelis, Combs, Susan, Pearl, Phillip L.
Publicado em 2010

Leptin Levels in Children and Adults with Classic Galactosaemia

Por Knerr, Ina, Coss, Karen P., Doran, Peter P., Hughes, Joanne, Wareham, Nick, Burling, Keith, Treacy, Eileen P.
Publicado em 2012

Friedreich Ataxia in Classical Galactosaemia

Por Neville, Siobhán, O’Sullivan, Siobhan, Sweeney, Bronagh, Lynch, Bryan, Hanrahan, Donncha, Knerr, Ina, Lynch, Sally Ann, Crushell, Ellen
Publicado no JIMD Rep (2015)

Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10

Por Sherman, Eric A., Strauss, Kevin A., Tortorelli, Silvia, Bennett, Michael J., Knerr, Ina, Morton, D. Holmes, Puffenberger, Erik G.
Publicado em 2008

IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia

Por Stockmann, Henning, Coss, Karen P., Rubio-Gozalbo, M. Estela, Knerr, Ina, Fitzgibbon, Maria, Maratha, Ashwini, Wilson, James, Rudd, Pauline, Treacy, Eileen P.
Publicado no JIMD Rep (2015)

Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis

Por Maratha, Ashwini, Stockmann, Henning, Coss, Karen P, Estela Rubio-Gozalbo, M, Knerr, Ina, Fitzgibbon, Maria, McVeigh, Terri P, Foley, Patricia, Moss, Catherine, Colhoun, Hugh-Owen, van Erven, Britt, Stephens, Kelly, Doran, Peter, Rudd, Pauline, Treacy, Eileen
Publicado no Eur J Hum Genet (2016)

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

Por Alston, Charlotte L, Howard, Caoimhe, Oláhová, Monika, Hardy, Steven A, He, Langping, Murray, Philip G, O'Sullivan, Siobhan, Doherty, Gary, Shield, Julian P H, Hargreaves, Iain P, Monavari, Ardeshir A, Knerr, Ina, McCarthy, Peter, Morris, Andrew A M, Thorburn, David R, Prokisch, Holger, Clayton, Peter E, McFarland, Robert, Hughes, Joanne, Crushell, Ellen, Taylor, Robert W
Publicado no J Med Genet (2016)

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

Por Welling, Lindsey, Bernstein, Laurie E., Berry, Gerard T., Burlina, Alberto B., Eyskens, François, Gautschi, Matthias, Grünewald, Stephanie, Gubbels, Cynthia S., Knerr, Ina, Labrune, Philippe, van der Lee, Johanna H., MacDonald, Anita, Murphy, Elaine, Portnoi, Pat A., Õunap, Katrin, Potter, Nancy L., Rubio-Gozalbo, M. Estela, Spencer, Jessica B., Timmers, Inge, Treacy, Eileen P., Van Calcar, Sandra C., Waisbren, Susan E., Bosch, Annet M.
Publicado no J Inherit Metab Dis (2016)

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

Por Grünert, Sarah C, Müllerleile, Stephanie, De Silva, Linda, Barth, Michael, Walter, Melanie, Walter, Kerstin, Meissner, Thomas, Lindner, Martin, Ensenauer, Regina, Santer, René, Bodamer, Olaf A, Baumgartner, Matthias R, Brunner-Krainz, Michaela, Karall, Daniela, Haase, Claudia, Knerr, Ina, Marquardt, Thorsten, Hennermann, Julia B, Steinfeld, Robert, Beblo, Skadi, Koch, Hans-Georg, Konstantopoulou, Vassiliki, Scholl-Bürgi, Sabine, van Teeffelen-Heithoff, Agnes, Suormala, Terttu, Sperl, Wolfgang, Kraus, Jan P, Superti-Furga, Andrea, Schwab, Karl Otfried, Sass, Jörn Oliver
Publicado em 2013