Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study
- Creator: Mackay, Jessica , Nixon, Gillian M. , Vora, Komal , Crock, Patricia , Verge, Charles , Musthaffa, Yassmin , Blecher, Greg , Caudri, Daan , Leonard, Helen , Jacoby, Peter , Wilson, Andrew , Choong, Catherine S. , Lafferty, Antony R. , Downs, Jenny , Ambler, Geoff , Kapur, Nitin , Bergman, Philip B. , Schofield, Cara , Seton, Chris , Tai, Andrew , Tham, Elaine
- Resource Type: journal article
- Date: 2022
Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome
- Creator: Choong, Catherine S. , Nixon, Gillian M. , Schofield, Cara , Seton, Chris , Tai, Andrew , Tham, Elaine , Vora, Komal , Crock, Patricia , Verge, Charles , Musthaffa, Yassmin , Blecher, Greg , Wilson, Andrew , Blackmore, A. Marie , Downs, Jenny , Chen, Wai , Jacoby, Peter , Leonard, Helen , Lafferty, Antony R. , Ambler, Geoff , Kapur, Nitin , Bergman, Philip B.
- Resource Type: journal article
- Date: 2022
Requirements for improving health and well-being of children with Prader-Willi syndrome and their families
- Creator: Mackay, Jessica , McCallum, Zoe , Ambler, Geoffrey R. , Vora, Komal , Nixon, Gillian , Bergman, Philip , Shields, Nora , Milner, Kate , Kapur, Nitin , Crock, Patricia , Caudri, Daan , Curran, Jaqueline , Verge, Charles , Seton, Chris , Tai, Andrew , Tham, Elaine , Musthaffa, Yassmin , Lafferty, Antony R. , Blecher, Greg , Harper, Jessica , Schofield, Cara , Nielsen, Aleisha , Wilson, Andrew , Leonard, Helen , Choong, Catherine S. , Downs, Jenny
- Resource Type: journal article
- Date: 2019
Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants
- Creator: Pisciotta, Livia , Tozzi, Giulia , Vora, Komal , Nightingale, Scott , Michelakakis, Helen , Garoufi, Anastasia , Lykopoulou, Lilia , Bertolini, Stefano , Calandra, Sebastiano , Travaglini, Lorena , Taurisano, Roberta , Lucchi, Tiziano , Indolfi, Giuseppe , Papadia, Francesco , Di Rocco, Maja , D'Antiga, Lorenzo , Crock, Patricia
- Resource Type: journal article
- Date: 2017