Wood, Georgina; Pinto, Alex; Evans, Sharon; Daly, Anne; Adams, Sandra; Costelloe, Susie; Gribben, Joanna; Ellerton, Charlotte; Emm, Anita; Firman, Sarah; Ford, Suzanne; French, Moira; Gaff, Lisa; Giuliano, Emily; Hill, Melanie; Hunjan, Inderdip; Newby, Camille; Mackenzie, Allison; Pereira, Rachel; Prescott, Celine; Robertson, Louise; Seabert, Heidi; Skeath, Rachel; Tapley, Simon; Terry, Allyson; Tooke, Alison; van Wyk, Karen; White, Fiona J.; White, Lucy; Woodall, Alison; Rocha, Julio Cesar; MacDonald, Anita

Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease

酶替代疗法和造血干细胞移植: Wolman病治疗的新范式

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2021-05-2124

OAAI

Uniformity of Food Protein Interpretation Amongst Dietitians for Patients with Phenylketonuria (PKU): 2020 UK National Consensus Statements

NUTRIENTS

IF5

2020-07-2411

OAAI

Evans, Sharon; Adam, Sarah; Adams, Sandra; Allen, Heather; Ashmore, Catherine; Bailey, Sarah; Banks, Janette; Churchill, Harriet; Cochrane, Barbara; Cook, Jennifer; Dale, Clare; Daly, Anne; Dixon, Marjorie; Dunlop, Carolyn; Ellerton, Charlotte; Emm, Anita; Firman, Sarah; Ford, Suzanne; French, Moira; Gribben, Joanna; Grimsley, Anne; Herlihy, Ide; Hill, Melanie; Judd, Shirley; Lang, Karen; Males, Jo; McDonald, Joy; McStravick, Nicola; Millington, Chloe; Newby, Camille; Noble, Catharine; Pereira, Rachel; Pinto, Alex; Robertson, Louise; Robotham, Abigail; Ross, Kathleen; Singleton, Kath; Skeath, Rachel; Terry, Allyson; Van Wyk, Karen; White, Fiona; White, Lucy; Wildgoose, Jo; Woodall, Alison; MacDonald, Anita

Development of national consensus statements on food labelling interpretation and protein allocation in a low phenylalanine diet for PKU

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2019-01-037

OAAI

Evans, Sharon; Ford, Suzanne; Adam, Sarah; Adams, Sandra; Ash, Jane; Ashmore, Catherine; Caine, Gillian; Carruthers, Rachel; Cawtherley, Sarah; Chahal, Satnam; Clark, Anne; Cochrane, Barbara; Daly, Anne; Dines, Karen; Dixon, Marjorie; Dunlop, Carolyn; Ellerton, Charlotte; French, Moira; Gaff, Lisa; Gingell, Cerys; Green, Diane; Gribben, Joanna; Grimsley, Anne; Hallam, Paula; Hendroff, Una; Hill, Melanie; Hoban, Rachel; Howe, Sarah; Hunjan, Inderdip; Kaalund, Kit; Kelleher, Eimear; Khan, Farzana; Kitchen, Steve; Lang, Karen; Lowry, Sharan; Males, Jo; Martin, Georgina; McStravick, Nicola; Micciche, Avril; Newby, Camille; Nicol, Claire; Pereira, Rachel; Robertson, Louise; Ross, Kathleen; Simpson, Emma; Singleton, Kath; Skeath, Rachel; Stafford, Jacqueline; Terry, Allyson; Thom, Ruth; Tooke, Alison; Vanwyk, Karen; White, Fiona; White, Lucy; MacDonald, Anita

Experience of the nutritional management of infantile onset lysosomal acid lipase deficiency (LALD)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2018-02-012

PREAI

Management guidelines for infantile onset lysosomal acid lipase deficiency (LALD)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2018-02-012

PREAI

Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach

MOLECULAR GENETICS AND METABOLISM

IF3.5

2015-05-0132

PREAI

Aguiar, A.; Ahring, K.; Almeida, M. F.; Assoun, M.; Belanger Quintana, A.; Bigot, S.; Bihet, G.; Malmberg, K. Blom; Burlina, A.; Bushueva, T.; Caris, A.; Chan, H.; Clark, A.; Clark, S.; Cochrane, B.; Corthouts, K.; Dalmau, J.; Dassy, M.; De Meyer, A.; Didycz, B.; Diels, M.; Dokupil, K.; Dubois, S.; Eftring, K.; Ekengren, J.; Ellerton, C.; Evans, S.; Faria, A.; Fischer, A.; Ford, S.; Freisinger, P.; Gizewska, M.; Gokmen-Ozel, H.; Gribben, J.; Gunden, F.; Heddrich-Ellerbrok, M.; Heiber, S.; Heidenborg, C.; Jankowski, C.; Janssen-Regelink, R.; Jones, I.; Jonkers, C.; Joerg-Streller, M.; Kaalund-Hansen, K.; Kiss, E.; Lammardo, A. M.; Lang, K.; Lier, D.; Lilje, R.; Lowry, S.; Luyten, K.; MacDonald, A.; Meyer, U.; Moor, D.; Pal, A.; Robert, M.; Robertson, L.; Rocha, J. C.; Rohde, C.; Ross, K.; Saruhan, S.; Sjoqvist, E.; Skeath, R.; Stoelen, L.; Ter Horst, N. M.; Terry, A.; Timmer, C.; Tuncer, N.; Vande Kerckhove, K.; van der Ploeg, L.; van Rijn, M.; van Spronsen, F. J.; van Teeffelen-Heithoff, A.; van Wegberg, A.; van Wyk, K.; Vasconcelos, C.; Vitoria, I.; Wildgoose, J.; Webster, D.; White, F. J.; Zweers, H.

Clinical effect of sebelipase alfa on survival and growth in infants with lysosomal acid lipase deficiency (Wolman disease)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2014-02-015

OAAI

Dietary practices in pyridoxine non-responsive homocystinuria: A European survey

MOLECULAR GENETICS AND METABOLISM

IF3.5

2013-12-0119

PREAI

Adam, S.; Almeida, M. F.; Weber, E. Carbasius; Champion, H.; Chan, H.; Daly, A.; Dixon, M.; Dokoupil, K.; Egli, D.; Evans, S.; Eyskens, F.; Faria, A.; Ferguson, C.; Hallam, P.; Heddrich-Ellerbrok, M.; Jacobs, J.; Jankowski, C.; Lachmann, R.; Lilje, R.; Link, R.; Lowry, S.; Luyten, K.; MacDonald, A.; Maritz, C.; Martins, E.; Meyer, U.; Mueller, E.; Murphy, E.; Robertson, L. V.; Rocha, J. C.; Saruggia, I.; Schick, P.; Stafford, J.; Stoelen, L.; Terry, A.; Thom, R.; van den Hurk, T.; van Rijn, M.; van Teefelen-Heithoff, A.; Webster, D.; White, F. J.; Wildgoose, J.; Zweers, H.

Dietary management of urea cycle disorders: European practice

MOLECULAR GENETICS AND METABOLISM

IF3.5

2013-12-0144

PREAI

Adam, S.; Almeida, M. F.; Assoun, M.; Baruteau, J.; Bernabei, S. M.; Bigot, S.; Champion, H.; Daly, A.; Dassy, M.; Dawson, S.; Dixon, M.; Dokoupil, K.; Dubois, S.; Dunlop, C.; Evans, S.; Eyskens, F.; Faria, A.; Favre, E.; Ferguson, C.; Goncalves, C.; Gribben, J.; Heddrich-Ellerbrok, M.; Jankowski, C.; Janssen-Regelink, R.; Jouault, C.; Laguerre, C.; Le Verge, S.; Link, R.; Lowry, S.; Luyten, K.; MacDonald, A.; Maritz, C.; McDowell, S.; Meyer, U.; Micciche, A.; Robert, M.; Robertson, L. V.; Rocha, J. C.; Rohde, C.; Saruggia, I.; Sjoqvist, E.; Stafford, J.; Terry, A.; Thom, R.; Vande Kerckhove, K.; van Rijn, M.; van Teeffelen-Heithoff, A.; van Wegberg, A.; van Wyk, K.; Vasconcelos, C.; Vestergaard, H.; Webster, D.; White, F. J.; Wildgoose, J.; Zweers, H.

Unsuccessful treatment of severe pyruvate carboxylase deficiency with triheptanoin

EUROPEAN JOURNAL OF PEDIATRICS

IF2.6

2013-10-1018

PREAI

Randomised controlled trial of essential fatty acid supplementation in phenylketonuria

European Journal of Clinical Nutrition

IF3.3

2006-03-0832

PREAI

Risk factors for non-fatal myocardial infarction in young South Asian adults

HEART