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Works (5)

Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia‐induced acute pancreatitis

JIMD Reports
2024-07 | Journal article
DOI: 10.1002/jmd2.12434
Contributors: Oliver Heath; Brooke Allender; Joel Smith; Elena Savva; Lucy Spencer; Elizabeth G. Bannister; Natasha J. Brown; Maureen S. Evans; Sharmila Kiss; Thomas H. Rozen et al.
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Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant

Journal of Inherited Metabolic Disease
2023-07 | Journal article
DOI: 10.1002/jimd.12621
Contributors: Isabelle Adant; Joy Yaplito‐Lee; Sharmila Kiss
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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
2023-06 | Journal article
DOI: 10.1002/ajmg.a.63170
Contributors: Sharmila Kiss; John Christodoulou; David R. Thorburn; Jeremy L. Freeman; Andrew J. Kornberg; Simone Mandelstam; Alison G. Compton; Beryl Cummings; Lynn Pais; Joy Yaplito‐Lee et al.
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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
2020-12 | Journal article
DOI: 10.1111/jpc.15241
Contributors: Sharmila Kiss; Kai M Hong; Joel Sadowsky; Ronda F Greaves; Joy Yaplito‐Lee
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Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia

JIMD Reports
2020-11 | Journal article
DOI: 10.1002/jmd2.12161
Contributors: Sharmila Kiss; Joy Yaplito Lee; James Pitt; Duncan MacGregor; Jane Wallace; Melanie Marty; Natasha J. Brown
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