SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype

por Kamarus Jaman, Nazreen, Rehsi, Preeya, Henderson, Robert H., Löbel, Ulrike, Mankad, Kshitij, Grunewald, Stephanie
Publicado 2021

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

por Yeo, Mildrid, Rehsi, Preeya, Dorman, Megan, Grunewald, Stephanie, Baruteau, Julien, Chakrapani, Anupam, Footitt, Emma, Prunty, Helen, McSweeney, Melanie
Publicado 2023

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

por Yeo, Mildrid, Rehsi, Preeya, Dorman, Megan, Grunewald, Stephanie, Baruteau, Julien, Chakrapani, Anupam, Footitt, Emma, Prunty, Helen, McSweeney, Melanie
Publicado 2022

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

por Whitehouse, Abigail, Rehsi, Preeya, Hartley, Louise, Grunewald, Stephanie, Yilmaz, Berna Seker, Pegoretti Baruteau, Kelly, Yaman, Ayhan, Thavagnanam, Suren, Baruteau, Julien
Publicado 2023