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Neuromuscular Disorders : NMD|May 19, 2020
Is it Pompe Disease? Australian diagnostic considerationsMichel Tchan, Robert Henderson, Andrew Kornberg, et al.Journal of Pediatric Gastroenterology and Nutrition|October 15, 2013
Gastrointestinal dysmotility in Rett syndromeGordon Baikie, Madhur Ravikumara, Jenny Downs, et al.Journal of Child Neurology|December 15, 2007
Dietary L-tyrosine supplementation in nemaline myopathyMonique M Ryan, Catherine Sy, Sian Rudge, et al.Journal of Paediatrics and Child Health|February 14, 2019
The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian childrenPeter Giudice-Nairn, Jenny Downs, Kingsley Wong, et al.Developmental Medicine and Child Neurology|December 15, 2015
Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort studyJenny Downs, Ian Torode, Kingsley Wong, et al.Journal of Pediatric Gastroenterology and Nutrition|October 3, 2013
Assessment and management of nutrition and growth in Rett syndromeHelen Leonard, Madhur Ravikumara, Gordon Baikie, et al.JIMD Reports|February 20, 2020
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patientsHossein Moravej, Ruqaiah Altassan, Jaak Jaeken, et al.Journal of Paediatrics and Child Health|April 25, 2020
Neuronal ceroid lipofuscinosis type 2: an Australian case seriesAlexandra M Johnson, Simone Mandelstam, Ian Andrews, et al.Diabetes|May 23, 2014
Recessive mutations in PCBD1 cause a new type of early-onset diabetesDeimante Simaite, Julia Kofent, Maolian Gong, et al.Mitochondrion|August 1, 2016
Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial diseaseManoj P Menezes, Shamima Rahman, Kaustuv Bhattacharya, et al.Pageof 7