Varied phenotype of Homocystinuria: Possible diagnostic error

por Yap, Sufin
Publicado 2014

Post-transplantation Outcomes in Patients with PA or MMA: A Review of the Literature

por Yap, Sufin, Vara, Roshni, Morais, Ana
Publicado 2020

“It’s Just Always Eating”: The Experiences of Young People Growing up Medium Chain Acyl-coA Dehydrogenase Deficiency

por Piercy, Hilary, Nutting, Charlotte, Yap, Sufin
Publicado 2021

Cerebral venous sinus thrombosis in homocystinuria: Dietary intervention in conjunction with anticoagulation

por Yap, Sufin, Annesley-Williams, Deborah, Hardiman, Orla
Publicado 2017

Parental Experiences of Raising a Child With Medium Chain Acyl-CoA Dehydrogenase Deficiency

por Piercy, Hilary, Machaczek, Katarzyna, Ali, Parveen, Yap, Sufin
Publicado 2017

What are the information needs of parents caring for a child with Glutaric aciduria type 1?

por Piercy, Hilary, Yeo, Mildrid, Yap, Sufin, Hart, Anthony R.
Publicado 2019

N‐carbamoylglutamate‐responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effects

por Yap, Sufin, Gougeard, Nadine, Hart, Anthony R., Barcelona, Belén, Rubio, Vicente
Publicado 2019

Management and investigation of neonatal encephalopathy: 2017 update

por Martinello, Kathryn, Hart, Anthony R, Yap, Sufin, Mitra, Subhabrata, Robertson, Nicola J
Publicado 2017

Diversity of Cystathionine β-Synthase Haplotypes Bearing the Most Common Homocystinuria Mutation c.833T>C: A Possible Role for Gene Conversion

por Vyletal, Petr, Sokolová, Jitka, Cooper, David N., Kraus, Jan P., Krawczak, Michael, Pepe, Guglielmina, Rickards, Olga, Koch, Hans G., Linnebank, Michael, Kluijtmans, Leo A. J., Blom, Henk J., Boers, Godfried H. J., Gaustadnes, Mette, Skovby, Flemming, Wilcken, Bridget, Wilcken, David E. L., Andria, Generoso, Sebastio, Gianfranco, Naughten, Eileen R., Yap, Sufin, Ohura, Toshihiro, Pronicka, Ewa, Laszlo, Aranka, Kožich, Viktor
Publicado 2007

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

por Morris, Andrew A. M., Kožich, Viktor, Santra, Saikat, Andria, Generoso, Ben-Omran, Tawfeg I. M., Chakrapani, Anupam B., Crushell, Ellen, Henderson, Mick J., Hochuli, Michel, Huemer, Martina, Janssen, Miriam C. H., Maillot, Francois, Mayne, Philip D., McNulty, Jenny, Morrison, Tara M., Ogier, Helene, O’Sullivan, Siobhan, Pavlíková, Markéta, de Almeida, Isabel Tavares, Terry, Allyson, Yap, Sufin, Blom, Henk J., Chapman, Kimberly A.
Publicado 2016