Sharmila Kiss

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 7

Top Topics

Cancer Stem Cells

Magnetic Resonance Imaging

Top Venues

Journal of inherited metabolic disease

American journal of medical genetics. Part A

Journal of paediatrics and child health

This page only lists publications with an associated author ORCID identifier.

Publications

Oliver Heath, Brooke Allender, Joel Smith, Elena Savva, Lucy Spencer, Elizabeth G Bannister, Natasha J Brown, Maureen S Evans, Sharmila Kiss, Thomas H Rozen, Joy Yaplito-Lee
Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia-induced acute pancreatitis. JIMD reports 65 (4) (2024)
Oliver Heath, Brooke Allender, Joel Smith, Elena Savva, Lucy Spencer, Elizabeth G Bannister, Natasha J Brown, Maureen S Evans, Sharmila Kiss, Thomas H Rozen, Joy Yaplito-Lee
Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia-induced acute pancreatitis. JIMD reports 65 (4) (2024)
Isabelle Adant, Joy Yaplito-Lee, Sharmila Kiss
Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant. Journal of inherited metabolic disease (2023)
Isabelle Adant, Joy Yaplito-Lee, Sharmila Kiss
Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant. Journal of inherited metabolic disease (2023)
Sharmila Kiss, John Chrisodoulou, David R Thorburn, Jeremy L Freeman, Andrew J Kornberg, Simone Mandelstam, Alison G Compton, Beryl Cummings, Lynn Pais, Joy Yaplito-Lee, Susan M White
A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes. American journal of medical genetics. Part A (2023)
Sharmila Kiss, Kai M Hong, Joel Sadowsky, Ronda F Greaves, Joy Yaplito-Lee
VERY LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY: CASE REPORT OF HYPOGLYCAEMIA AND RHABDOMYOLYSIS IN A 2-DAY-OLD INFANT. Journal of paediatrics and child health 56 (12) (2021)
Sharmila Kiss, Joy Yaplito Lee, James Pitt, Duncan MacGregor, Jane Wallace, Melanie Marty, Natasha J Brown
Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia. JIMD reports 56 (1) (2020)