Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria by Whitehall, Kaleigh B, Rose, Sarah, Clague, Gillian E, Ahring, Kirsten K, Bilder, Deborah A, Harding, Cary O, Hermida, Álvaro, Inwood, Anita, Longo, Nicola, Maillot, François, Muntau, Ania C, Pessoa, André L S, Rocha, Júlio C, Rohr, Fran, Sivri, Serap, Said, Jack, Oshinbolu, Sheun, Sibbring, Gillian C

Get full text

Meta-analysis of bone mineral density in adults with phenylketonuria by Rocha, Júlio C, Hermida, Álvaro, Jones, Cheryl J, Wu, Yunchou, Clague, Gillian E, Rose, Sarah, Whitehall, Kaleigh B, Ahring, Kirsten K, Pessoa, André L S, Harding, Cary O, Rohr, Fran, Inwood, Anita, Longo, Nicola, Muntau, Ania C, Sivri, Serap, Maillot, François

Get full text

Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria by Rocha, Júlio César, Ahring, Kirsten K, Bausell, Heather, Bilder, Deborah A, Harding, Cary O, Inwood, Anita, Longo, Nicola, Muntau, Ania C, Pessoa, André L. Santos, Rohr, Fran, Sivri, Serap, Hermida, Álvaro

Get full text

Pharmacodynamics, safety, tolerability and pharmacokinetics of a single oral dose of an engineered phenylalanine ammonia-lyase in patients with phenylketonuria by Fazio, Timothy Nicholas, Healy, Louise, Heise, Tim, Inwood, Anita, Manolikos, Catherine, Rahman, Yusof, Woerle, Hans-Juergen, Hendriksz, Christian J.

Get full text

N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report by Selvanathan, Arthavan, Demetriou, Kalliope, Lynch, Matthew, Lipke, Michelle, Bursle, Carolyn, Elliott, Aoife, Inwood, Anita, Foyn, Leanne, McWhinney, Brett, Coman, David, McGill, Jim

Get full text

P032: Systematic literature review of the prevalence and severity of somatic comorbidities in adults with phenylketonuria by Whitehall, Kaleigh Bulloch, Rose, Sarah, Clague, Gillian, Ahring, Kirsten, Bilder, Deborah, Harding, Cary, Hermida, Álvaro, Inwood, Anita, Longo, Nicola, Maillot, François, Muntau, Ania, Pessoa, André Santos, Rocha, Júlio César, Rohr, Fran, Sivri, H. Serap, Said, Jack, Oshinbolu, Sheun, Sibbring, Gillian

Get full text

Overcoming the barriers to diagnosis of Morquio A syndrome by Bhattacharya, Kaustuv, Balasubramaniam, Shanti, Choy, Yew Sing, Fietz, Michael, Fu, Antony, Jin, Dong Kyu, Kim, Ok-Hwa, Kosuga, Motomichi, Kwun, Young Hee, Inwood, Anita, Lin, Hsiang-Yu, McGill, Jim, Mendelsohn, Nancy J, Okuyama, Torayuki, Samion, Hasri, Tan, Adeline, Tanaka, Akemi, Thamkunanon, Verasak, Toh, Teck-Hock, Yang, Albert D, Lin, Shuan-Pei

Get full text

Safety and Efficacy of Elosulfase Alfa in Australian Patients with Morquio a Syndrome: A Phase 3b Study by Bhattacharya, Kaustuv, Balasubramaniam, Shanti, Murray, Kevin, Peters, Heidi, Ketteridge, David, Inwood, Anita, Lee, Joy, Ellaway, Carolyn, Owens, Penny, Wong, Melanie, Ly, Christine, McGill, Jim

Get full text

The collective burden of childhood dementia: a scoping review by Elvidge, Kristina L, Christodoulou, John, Farrar, Michelle A, Tilden, Dominic, Maack, Megan, Valeri, Madeline, Ellis, Magda, Smith, Nicholas J C

Get full text

An international classification of inherited metabolic disorders (ICIMD) by Ferreira, Carlos R., Rahman, Shamima, Keller, Markus, Zschocke, Johannes, Abdenur, Jose, Ali, Houda, Artuch, Rafael, Ballabio, Andrea, Barshop, Bruce, Baumgartner, Matthias, Bertini, Enrico Silvio, Blau, Nenad, Carelli, Valerio, Carroll, Christopher, Chinnery, Patrick F., Christodoulou, John, Cornejo, Veronica, Darin, Niklas, Derks, Terry, Diodato, Daria, Dionisi‐Vici, Carlo, Duley, John A., Fukao, † Toshi, García‐Cazorla, Ángeles, Giugliani, Roberto, Goldstein, Amy, Hoffmann, Georg, Horvath, Rita, Ibarra, Isabel, Inwood, Anita, Jaeken, Jaak, Jimenez‐Mallebrera, Cecilia, Karaa, Amel, Klopstock, Thomas, Kölker, Stefan, Kornblum, Cornelia, Kožich, Viktor, Lamperti, Costanza, Larsson, Nils‐Göran, Lemes, Aida, Lewis, Barry, Mancuso, Michelangelo, McFarland, Robert, Mochel, Fanny, Montoya, Julio, Morava, Eva, Naess, Karin, Okuyama, Torayuki, Olry, Annie, Paquis‐Flucklinger, Veronique, Parikh, Sumit, Patterson, Marc, Pérez de Ferrán, Ceila, Peters, Verena, Prokisch, Holger, Saada, Ann, Salomons, Gajja S., Saudubray, Jean‐Marie, Scarpa, Maurizio, Schara‐Schmidt, Ulrike, Schiff, Manuel, Servidei, Serenella, Smeitink, Jan, Suomalainen, Anu, Tangeraas, Trine, Taylor, Robert W., Thiele, Ines, Thorburn, David, Hove, Johan, der Ploeg, Ans T., Karnebeek, Clara, Visser, Gepke, Vockley, Jerry, Wanders, Ronald, Webster, Dianne, Wedell, Anna, Wiley, Veronica, Wredenberg, Anna, Zeviani, Massimo

Get full text

Triple P for Parents of Children with Phenylketonuria: A Nonrandomized Trial by Mitchell, Amy E, Morawska, Alina, Kirby, Grace, McGill, James, Coman, David, Inwood, Anita

Get full text

Psychosocial functioning in children with phenylketonuria: Relationships between quality of life and parenting indicators by Morawska, Alina, Mitchell, Amy E., Etel, Evren, Kirby, Grace, McGill, James, Coman, David, Inwood, Anita

Get full text

Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia by Demetriou, Kalliope, Nisbet, Janelle, Coman, David, Ewing, Adam D., Phillips, Liza, Smith, Sally, Lipke, Michelle, Inwood, Anita, Spicer, Janette, Atthow, Catherine, Wilgen, Urs, Robertson, Thomas, McWhinney, Avis, Swenson, Rebecca, Espley, Brayden, Snowdon, Brianna, McGill, James J., Summers, Kim M.

Get full text

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis by Coman, David, Vissers, Lisenka E.L.M., Riley, Lisa G., Kwint, Michael P., Hauck, Roxanna, Koster, Janet, Geuer, Sinje, Hopkins, Sarah, Hallinan, Barbra, Sweetman, Larry, Engelke, Udo F.H., Burrow, T. Andrew, Cardinal, John, McGill, James, Inwood, Anita, Gurnsey, Christine, Waterham, Hans R., Christodoulou, John, Wevers, Ron A., Pitt, James

Get full text

Clinician experience, perceptions, and acceptance of paediatric complex care nurse practitioner roles by Inwood, Anita, Philips, Leanne, Sellars, Fiona, Shevill, Elizabeth, McCosker, Joanna, O’Grady, Bernadette, Nkwenty, Edith, Gordon, Kerry, Reilly, Claire, Buys, Juliana, Bradford, Natalie

Get full text

Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI) by Choy, Yew Sing, Bhattacharya, Kaustuv, Balasubramaniam, Shanti, Fietz, Michael, Fu, Antony, Inwood, Anita, Jin, Dong-Kyu, Kim, Ok-Hwa, Kosuga, Motomichi, Kwun, Young Hee, Lin, Hsiang-Yu, Lin, Shuan-Pei, Mendelsohn, Nancy J., Okuyama, Torayuki, Samion, Hasri, Tan, Adeline, Tanaka, Akemi, Thamkunanon, Verasak, Thong, Meow-Keong, Toh, Teck-Hock, Yang, Albert D., McGill, Jim

Get full text