Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.

Autor: Riley LG; Rare Diseases Functional Genomics, Kids Research, The Children's Hospital at Westmead and The Children's Medical Research Institute, Sydney, NSW, Australia. lisa.riley@health.nsw.gov.au.; Specialty of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia. lisa.riley@health.nsw.gov.au., Sabui S; Department of Physiology/Biophysics, University of California, Irvine, CA, USA.; Department of Research, Veterans Affairs Medical Center, Long Beach, CA, USA., Said HM; Department of Physiology/Biophysics, University of California, Irvine, CA, USA.; Department of Research, Veterans Affairs Medical Center, Long Beach, CA, USA.; Department of Medicine, University of California, Irvine, CA, USA., Niaz A; Rare Diseases Functional Genomics, Kids Research, The Children's Hospital at Westmead and The Children's Medical Research Institute, Sydney, NSW, Australia., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Suma Genomics Private Limited and Manipal Center for Biotherapeutics Research, Manipal Academy of Higher Education, Manipal, India., Radhakrishnan P; Suma Genomics Private Limited and Manipal Center for Biotherapeutics Research, Manipal Academy of Higher Education, Manipal, India.; Division of Reproductive Genetics, Department of Reproductive Science, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India., Yesodharan D; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India., Kilo T; Haematology Department, Children's Hospital at Westmead, Westmead, NSW, Australia., Smith J; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, 2145, Australia.; Western Sydney Genetics Program, The Children's Hospital at Westmead, Westmead, NSW, Australia.; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, NSW, Australia., Wong RSH; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW, Australia., Menezes MP; Specialty of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW, Australia.; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, NSW, Australia., Gupta S; Specialty of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW, Australia., Cooper ST; Specialty of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, NSW, Australia.; The Children's Medical Research Institute, Westmead, NSW, Australia., Balasubramaniam S; Western Sydney Genetics Program, The Children's Hospital at Westmead, Westmead, NSW, Australia.; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, NSW, Australia.; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Westmead, NSW, Australia.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Aug; Vol. 32 (8), pp. 947-953. Date of Electronic Publication: 2024 May 30.

Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant.

Autor: Wong WK; TY Nelson Department of Neurology and Neurosurgery The Children's Hospital at Westmead Sydney New South Wales Australia., Balasubramaniam S; Genetic Metabolic Disorders Service The Children's Hospital at Westmead Sydney New South Wales Australia.; Discipline of Genomic Medicine, Sydney Medical School University of Sydney Sydney New South Wales Australia., Wong RSH; Genetic Metabolic Disorders Service The Children's Hospital at Westmead Sydney New South Wales Australia., Graf N; Department of Histopathology The Children's Hospital at Westmead Sydney Australia., Thorburn DR; Murdoch Children's Research Institute Melbourne Victoria Australia.; Department of Paediatrics University of Melbourne Melbourne Victoria Australia.; Victorian Clinical Genetics Services Melbourne Victoria Australia., McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University Newcastle upon Tyne UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK., Troedson C; TY Nelson Department of Neurology and Neurosurgery The Children's Hospital at Westmead Sydney New South Wales Australia.

Publikováno v: JIMD reports [JIMD Rep] 2022 Aug 24; Vol. 63 (6), pp. 546-554. Date of Electronic Publication: 2022 Aug 24 (Print Publication: 2022).

Analysis of residual crosslinking agent content in UV cross-linked poly(ethylene oxide) hydrogels for dermatological application by gas chromatography.

Autor: Wong RSH; Department of Pharmacy, Health and Wellbeing, Faculty of Applied Sciences, University of Sunderland, Science Complex, Wharncliffe Street, SR1 3SD, Sunderland, UK., Ashton M; Department of Pharmacy, Health and Wellbeing, Faculty of Applied Sciences, University of Sunderland, Science Complex, Wharncliffe Street, SR1 3SD, Sunderland, UK., Dodou K; Department of Pharmacy, Health and Wellbeing, Faculty of Applied Sciences, University of Sunderland, Science Complex, Wharncliffe Street, SR1 3SD, Sunderland, UK.

Publikováno v: Journal of pharmaceutical analysis [J Pharm Anal] 2016 Oct; Vol. 6 (5), pp. 307-312. Date of Electronic Publication: 2016 Apr 09.