Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders

af Brown, Amy, Crowe, Louise, Boneh, Avihu, Anderson, Vicki
Udgivet i JIMD Rep (2016)

The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in Phenylketonuria

af Evans, Maureen, Nguo, Kay, Boneh, Avihu, Truby, Helen
Udgivet i JIMD Rep (2017)

Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylase Deficiency

af Crowe, Louise, Anderson, Vicki, Hardikar, Winita, Boneh, Avihu
Udgivet i JIMD Rep (2018)

Neurodevelopmental Profiles of Children with Glutaric Aciduria Type I Diagnosed by Newborn Screening: A Follow-Up Case Series

af Brown, Amy, Crowe, Louise, Beauchamp, Miriam H., Anderson, Vicki, Boneh, Avihu
Udgivet i JIMD Rep (2014)

Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment

af van Dongen, Sanne, Brown, Ruth M., Brown, Garry K., Thorburn, David R., Boneh, Avihu
Udgivet i JIMD Rep (2014)

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene

af Bali, Deeksha S., Goldstein, Jennifer L, Fredrickson, Keri, Rehder, Catherine, Boney, Anne, Austin, Stephanie, Weinstein, David A., Lutz, Richard, Boneh, Avihu, Kishnani, Priya S.
Udgivet 2013

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

af Kirby, Denise M., Salemi, Renato, Sugiana, Canny, Ohtake, Akira, Parry, Lee, Bell, Katrina M., Kirk, Edwin P., Boneh, Avihu, Taylor, Robert W., Dahl, Hans-Henrik M., Ryan, Michael T., Thorburn, David R.
Udgivet 2004

A mitochondrial protein compendium elucidates complex I disease biology

af Pagliarini, David J., Calvo, Sarah E., Chang, Betty, Sheth, Sunil A., Vafai, Scott B., Ong, Shao-En, Walford, Geoffrey A., Sugiana, Canny, Boneh, Avihu, Chen, William K., Hill, David E., Vidal, Marc, Evans, James G., Thorburn, David R., Carr, Steven A., Mootha, Vamsi K.
Udgivet 2008

Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

af Lim, Sze Chern, Friemel, Martin, Marum, Justine E., Tucker, Elena J., Bruno, Damien L., Riley, Lisa G., Christodoulou, John, Kirk, Edwin P., Boneh, Avihu, DeGennaro, Christine M., Springer, Michael, Mootha, Vamsi K., Rouault, Tracey A., Leimkühler, Silke, Thorburn, David R., Compton, Alison G.
Udgivet 2013

Diagnosis and management of glutaric aciduria type I – revised recommendations

af Kölker, Stefan, Christensen, Ernst, Leonard, James V., Greenberg, Cheryl R., Boneh, Avihu, Burlina, Alberto B., Burlina, Alessandro P., Dixon, Marjorie, Duran, Marinus, García Cazorla, Angels, Goodman, Stephen I., Koeller, David M., Kyllerman, Mårten, Mühlhausen, Chris, Müller, Edith, Okun, Jürgen G., Wilcken, Bridget, Hoffmann, Georg F., Burgard, Peter
Udgivet 2011

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

af Olsen, Rikke K.J., Koňaříková, Eliška, Giancaspero, Teresa A., Mosegaard, Signe, Boczonadi, Veronika, Mataković, Lavinija, Veauville-Merllié, Alice, Terrile, Caterina, Schwarzmayr, Thomas, Haack, Tobias B., Auranen, Mari, Leone, Piero, Galluccio, Michele, Imbard, Apolline, Gutierrez-Rios, Purificacion, Palmfeldt, Johan, Graf, Elisabeth, Vianey-Saban, Christine, Oppenheim, Marcus, Schiff, Manuel, Pichard, Samia, Rigal, Odile, Pyle, Angela, Chinnery, Patrick F., Konstantopoulou, Vassiliki, Möslinger, Dorothea, Feichtinger, René G., Talim, Beril, Topaloglu, Haluk, Coskun, Turgay, Gucer, Safak, Botta, Annalisa, Pegoraro, Elena, Malena, Adriana, Vergani, Lodovica, Mazzà, Daniela, Zollino, Marcella, Ghezzi, Daniele, Acquaviva, Cecile, Tyni, Tiina, Boneh, Avihu, Meitinger, Thomas, Strom, Tim M., Gregersen, Niels, Mayr, Johannes A., Horvath, Rita, Barile, Maria, Prokisch, Holger
Udgivet i Am J Hum Genet (2016)