Rezultati pretrage - Knerr, Ina

Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects od Knerr, Ina, Weinhold, Natalie, Vockley, Jerry, Gibson, K. Michael

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Neuropsychiatric Morbidity in Adolescent and Adult Succinic Semialdehyde Dehydrogenase Deficiency Patients od Knerr, Ina, Gibson, K. Michael, Jakobs, Cornelis, Pearl, Phillip L.

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Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma od Foran, Jason, Moore, Michael, Crushell, Ellen, Knerr, Ina, McSweeney, Niamh

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Amino Acids and Inherited Amino Acid-Related Disorders od Knerr, Ina, Bernstein, Laurie, Crushell, Ellen, O'Sullivan, Siobhan, Sass, Jörn Oliver

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Plasma methionine concentrations and incidence of hypermethioninemic encephalopathy during infancy in a large cohort of 36 patients with classical homocystinuria in the Republic of... od Allen, John, Power, Bronwyn, Abedin, Aida, Purcell, Orla, Knerr, Ina, Monavari, Ahmad

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Expression of Neuropeptide Y, Omentin and Visfatin in Visceral and Subcutaneous Adipose Tissues in Humans: Relation to Endocrine and Clinical Parameters od Barth, Stephanie, Klein, Peter, Horbach, Thomas, Dötsch, Jörg, Rauh, Manfred, Rascher, Wolfgang, Knerr, Ina

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An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria od Knerr, Ina, Zschocke, Johannes, Schellmoser, Stefan, Topf, Hans G, Weigel, Corina, Dötsch, Jörg, Rascher, Wolfgang

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bZIP-Type transcription factors CREB and OASIS bind and stimulate the promoter of the mammalian transcription factor GCMa/Gcm1 in trophoblast cells od Schubert, Steffen Wolfgang, Abendroth, Alexandra, Kilian, Karin, Vogler, Tina, Mayr, Bernhard, Knerr, Ina, Hashemolhosseini, Said

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Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review od Maratha, Ashwini, Colhoun, Hugh-Owen, Knerr, Ina, Coss, Karen P., Doran, Peter, Treacy, Eileen P.

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Neuropathology in Succinic Semialdehyde Dehydrogenase Deficiency od Knerr, Ina, Gibson, K. Michael, Murdoch, Geoffrey, Salomons, Gajja S., Jakobs, Cornelis, Combs, Susan, Pearl, Phillip L.

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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... od Conlon, Tracey A., Fitzsimons, Patricia E., Borovickova, Ingrid, Kirby, Fidelma, Murphy, Sinéad, Knerr, Ina, Crushell, Ellen

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Leptin Levels in Children and Adults with Classic Galactosaemia od Knerr, Ina, Coss, Karen P., Doran, Peter P., Hughes, Joanne, Wareham, Nick, Burling, Keith, Treacy, Eileen P.

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Ten‐year retrospective review (2003‐2013) of 56 inpatient admissions to stabilize elevated phenylalanine levels od Clark, Anne, Merrigan, Christine, Crushell, Ellen, Hughes, Joanne, Knerr, Ina, Monavari, Ardeshir A., Treacy, Eileen, Coughlan, Aoife

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Friedreich Ataxia in Classical Galactosaemia od Neville, Siobhán, O’Sullivan, Siobhan, Sweeney, Bronagh, Lynch, Bryan, Hanrahan, Donncha, Knerr, Ina, Lynch, Sally Ann, Crushell, Ellen

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Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10 od Sherman, Eric A., Strauss, Kevin A., Tortorelli, Silvia, Bennett, Michael J., Knerr, Ina, Morton, D. Holmes, Puffenberger, Erik G.

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IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia od Stockmann, Henning, Coss, Karen P., Rubio-Gozalbo, M. Estela, Knerr, Ina, Fitzgibbon, Maria, Maratha, Ashwini, Wilson, James, Rudd, Pauline, Treacy, Eileen P.

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Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience od Boruah, Ritma, Monavari, Ahmad Ardeshir, Conlon, Tracey, Murphy, Nuala, Stroiescu, Andreea, Ryan, Stephanie, Hughes, Joanne, Knerr, Ina, McDonnell, Ciara, Crushell, Ellen

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Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake od Purcell, Orla, Coughlan, Aoife, Grant, Tim, McNulty, Jenny, Clark, Anne, Deverell, Deirdre, Mayne, Philip, Hughes, Joanne, Monavari, Ahmad, Knerr, Ina, Crushell, Ellen

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Glutaric aciduria type 1: Diagnosis, clinical features and long‐term outcome in a large cohort of 34 Irish patients od Healy, Lydia, O'Shea, Meabh, McNulty, Jennifer, King, Graham, Twomey, Eilish, Treacy, Eileen, Crushell, Ellen, Hughes, Joanne, Knerr, Ina, Monavari, Ahmad Ardeshir

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

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