検索結果 - Knerr, Ina

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

全文の入手 全文の入手 全文の入手

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

全文の入手 全文の入手

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

全文の入手 全文の入手 全文の入手

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

全文の入手 全文の入手 全文の入手

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

全文の入手 全文の入手 全文の入手

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

全文の入手 全文の入手 全文の入手

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

全文の入手 全文の入手 全文の入手

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

全文の入手 全文の入手 全文の入手

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

全文の入手 全文の入手 全文の入手

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

全文の入手 全文の入手 全文の入手

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

全文の入手 全文の入手 全文の入手

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

全文の入手 全文の入手 全文の入手

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

全文の入手 全文の入手 全文の入手

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

全文の入手 全文の入手 全文の入手

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

全文の入手 全文の入手 全文の入手

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

全文の入手 全文の入手 全文の入手

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

全文の入手 全文の入手 全文の入手

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

全文の入手 全文の入手 全文の入手

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

全文の入手 全文の入手 全文の入手

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

全文の入手 全文の入手 全文の入手