Preeya Rehsi

Affiliations
  • Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

Publications (5)

Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.

Molecular genetics and metabolism
Avec: Wenqian Chen , Preeya Rehsi , Kyle Thompson , Mildrid Yeo , Karen Stals , Langping He , Paul Schimmel , Zofia M A Chrzanowska-Lightowlers , Emma Wakeling , Robert W Taylor , Bernhard Kuhle

Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre.

JIMD reports
Avec: Mildrid Yeo , Preeya Rehsi , Megan Dorman , Stephanie Grunewald , Julien Baruteau , Anupam Chakrapani , Emma Footitt , Helen Prunty , Melanie McSweeney

Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4-oxo 6-hydroxyhepanoate (4OHHA), a putative diagnostic biomarker.

JIMD reports
Avec: Preeya Rehsi , Karolina Witek , Erin Emmett , Rachel Carling , Charles Turner , Neil Dalton , Tim Hutchin , Nedim Hadzic , Anil Dhawan , Roshni Vara

Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders.

JIMD reports
Avec: Mildrid Yeo , Preeya Rehsi , Megan Dorman , Stephanie Grunewald , Julien Baruteau , Anupam Chakrapani , Emma Footitt , Helen Prunty , Melanie McSweeney

Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects.

JIMD reports
Avec: Abigail Whitehouse , Preeya Rehsi , Louise Hartley , Stephanie Grunewald , Berna Seker Yilmaz , Kelly Pegoretti Baruteau , Ayhan Yaman , Suren Thavagnanam , Julien Baruteau

Réseau de co-auteurs

Mildrid Yeo 3 collaborations
Stephanie Grunewald 3 collaborations
Julien Baruteau 3 collaborations
Megan Dorman 2 collaborations
Anupam Chakrapani 2 collaborations
Emma Footitt 2 collaborations
Helen Prunty 2 collaborations
Melanie McSweeney 2 collaborations
Wenqian Chen 1 collaboration
Kyle Thompson 1 collaboration
Karen Stals 1 collaboration
Langping He 1 collaboration
Paul Schimmel 1 collaboration
Zofia M A Chrzanowska-Lightowlers 1 collaboration
Emma Wakeling 1 collaboration
Robert W Taylor 1 collaboration
Bernhard Kuhle 1 collaboration
Karolina Witek 1 collaboration
Erin Emmett 1 collaboration
Rachel Carling 1 collaboration
Charles Turner 1 collaboration
Neil Dalton 1 collaboration
Tim Hutchin 1 collaboration
Nedim Hadzic 1 collaboration
Anil Dhawan 1 collaboration
Roshni Vara 1 collaboration
Abigail Whitehouse 1 collaboration
Louise Hartley 1 collaboration
Berna Seker Yilmaz 1 collaboration
Kelly Pegoretti Baruteau 1 collaboration
Ayhan Yaman 1 collaboration
Suren Thavagnanam 1 collaboration