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

av Knerr, Ina, Weinhold, Natalie, Vockley, Jerry, Gibson, K. Michael
Publicerad 2011

Neuropsychiatric Morbidity in Adolescent and Adult Succinic Semialdehyde Dehydrogenase Deficiency Patients

av Knerr, Ina, Gibson, K. Michael, Jakobs, Cornelis, Pearl, Phillip L.
Publicerad 2008

Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma

av Foran, Jason, Moore, Michael, Crushell, Ellen, Knerr, Ina, McSweeney, Niamh
I publikationen JIMD Rep (2020)

Amino Acids and Inherited Amino Acid-Related Disorders

av Knerr, Ina, Bernstein, Laurie, Crushell, Ellen, O'Sullivan, Siobhan, Sass, Jörn Oliver
I publikationen J Nutr Metab (2018)

Plasma methionine concentrations and incidence of hypermethioninemic encephalopathy during infancy in a large cohort of 36 patients with classical homocystinuria in the Republic of...

av Allen, John, Power, Bronwyn, Abedin, Aida, Purcell, Orla, Knerr, Ina, Monavari, Ahmad
I publikationen JIMD Rep (2019)

Expression of Neuropeptide Y, Omentin and Visfatin in Visceral and Subcutaneous Adipose Tissues in Humans: Relation to Endocrine and Clinical Parameters

av Barth, Stephanie, Klein, Peter, Horbach, Thomas, Dötsch, Jörg, Rauh, Manfred, Rascher, Wolfgang, Knerr, Ina
I publikationen Obes Facts (2010)

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

av Knerr, Ina, Zschocke, Johannes, Schellmoser, Stefan, Topf, Hans G, Weigel, Corina, Dötsch, Jörg, Rascher, Wolfgang
Publicerad 2005

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

av Schubert, Steffen Wolfgang, Abendroth, Alexandra, Kilian, Karin, Vogler, Tina, Mayr, Bernhard, Knerr, Ina, Hashemolhosseini, Said
Publicerad 2008

Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review

av Maratha, Ashwini, Colhoun, Hugh-Owen, Knerr, Ina, Coss, Karen P., Doran, Peter, Treacy, Eileen P.
I publikationen JIMD Rep (2016)

Neuropathology in Succinic Semialdehyde Dehydrogenase Deficiency

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

Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: Further evidence of specific biochemical markers whi...

av Conlon, Tracey A., Fitzsimons, Patricia E., Borovickova, Ingrid, Kirby, Fidelma, Murphy, Sinéad, Knerr, Ina, Crushell, Ellen
I publikationen JIMD Rep (2020)

Leptin Levels in Children and Adults with Classic Galactosaemia

av Knerr, Ina, Coss, Karen P., Doran, Peter P., Hughes, Joanne, Wareham, Nick, Burling, Keith, Treacy, Eileen P.
Publicerad 2012

Ten‐year retrospective review (2003‐2013) of 56 inpatient admissions to stabilize elevated phenylalanine levels

av Clark, Anne, Merrigan, Christine, Crushell, Ellen, Hughes, Joanne, Knerr, Ina, Monavari, Ardeshir A., Treacy, Eileen, Coughlan, Aoife
I publikationen JIMD Rep (2019)

Friedreich Ataxia in Classical Galactosaemia

av Neville, Siobhán, O’Sullivan, Siobhan, Sweeney, Bronagh, Lynch, Bryan, Hanrahan, Donncha, Knerr, Ina, Lynch, Sally Ann, Crushell, Ellen
I publikationen JIMD Rep (2015)

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

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

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

av Stockmann, Henning, Coss, Karen P., Rubio-Gozalbo, M. Estela, Knerr, Ina, Fitzgibbon, Maria, Maratha, Ashwini, Wilson, James, Rudd, Pauline, Treacy, Eileen P.
I publikationen JIMD Rep (2015)

Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake

av Purcell, Orla, Coughlan, Aoife, Grant, Tim, McNulty, Jenny, Clark, Anne, Deverell, Deirdre, Mayne, Philip, Hughes, Joanne, Monavari, Ahmad, Knerr, Ina, Crushell, Ellen
I publikationen J Nutr Metab (2017)

Finger Prick to Finger Tip: Use of Mobile Phone Technology to Send PKU Blood Results

av Clark, Anne, Deverell, Deirdre, Corcoran, Emma, Macauley, Margaret, Newcombe, Nicola, Branagan, Peter, Coughlan, Aoife, Daly, Eimear, Moore Heslin, Aoibhin, Crushell, Ellen, Hughes, Joanne, Knerr, Ina, Monavari, Ahmad
I publikationen J Nutr Metab (2018)

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

av 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
I publikationen Eur J Hum Genet (2016)

Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions

av Colhoun, Hugh-Owen, Rubio Gozalbo, Estela M., Bosch, Annet M., Knerr, Ina, Dawson, Charlotte, Brady, Jennifer, Galligan, Marie, Stepien, Karolina, O’Flaherty, Roisin, Catherine Moss, C., Peter Barker, P., Fitzgibbon, Maria, Doran, Peter P., Treacy, Eileen P.
I publikationen Orphanet J Rare Dis (2018)