Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays von Zurynski, Yvonne, Deverell, Marie, Dalkeith, Troy, Johnson, Sandra, Christodoulou, John, Leonard, Helen, Elliott, Elizabeth J

Volltext

The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders von Bhattacharya, Kaustuv, Matar, Walid, Tolun, Adviye Ayper, Devanapalli, Beena, Thompson, Sue, Dalkeith, Troy, Lichkus, Kate, Tchan, Michel

Volltext

Australian children living with rare diseases: health service use and barriers to accessing care von Teutsch, Suzy, Zurynski, Yvonne, Eslick, Guy D., Deverell, Marie, Christodoulou, John, Leonard, Helen, Dalkeith, Troy, Johnson, Sandra L. J., Elliott, Elizabeth J.

Volltext

Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases von Thompson, Susan, Hertzog, Ashley, Selvanathan, Arthavan, Batten, Kiera, Lewis, Katherine, Nisbet, Janelle, Mitchell, Ashleigh, Dalkeith, Troy, Billmore, Kate, Moore, Francesca, Tolun, Adviye Ayper, Devanapalli, Beena, Bratkovic, Drago, Hilditch, Cathie, Rahman, Yusof, Tchan, Michel, Bhattacharya, Kaustuv

Volltext

Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales von Adams, Louisa, Selvanathan, Arthavan, Batten, Kiera J, van Doorn, Nancy, Thompson, Susan, Mitchell, Ashleigh, Sampaio, Hugo, Dalkeith, Troy, Russell, Jacqui, Ellaway, Carolyn J, Farrar, Michelle, Broderick, Carolyn, Bhattacharya, Kaustuv

Volltext

Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia von Elserafy, Noha, Thompson, Sue, Dalkeith, Troy, Stormon, Michael, Thomas, Gordon, Shun, Albert, Sawyer, Janine, Balasubramanian, Shanti, Bhattacharya, Kaustuv, Badawi, Nadia, Ellaway, Carolyn

Volltext

Health‐related out‐of‐pocket expenses for children living with rare diseases ‐ tuberous sclerosis and mitochondrial disorders: A prospective pilot study in Australian families... von Deverell, Marie, Phu, Amy, Elliott, Elizabeth J, Teutsch, Suzy M, Eslick, Guy D, Stuart, Clare, Murray, Sean, Davis, Rebecca, Dalkeith, Troy, Christodoulou, John, Zurynski, Yvonne A

Volltext

Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders von Mohammad, Shekeeb S, Angiti, Rajeshwar Reddy, Biggin, Andrew, Morales-Briceño, Hugo, Goetti, Robert, Perez-Dueñas, Belen, Gregory, Allison, Hogarth, Penelope, Ng, Joanne, Papandreou, Apostolos, Bhattacharya, Kaustuv, Rahman, Shamima, Prelog, Kristina, Webster, Richard I, Wassmer, Evangeline, Hayflick, Susan, Livingston, John, Kurian, Manju, Chong, W Kling, Dale, Russell C

Volltext

The first eighteen months of a paediatric ambulatory and community service von Woolfenden, Susan R, Dalkeith, Troy, Anderson, Teresa

Volltext

Additional file 1: of Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays von Zurynski, Yvonne, Deverell, Marie, Dalkeith, Troy, Johnson, Sandra, Christodoulou, John, Leonard, Helen, Elliott, Elizabeth

Volltext bestellen