Publications by authors named "Sufin Yap"

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Glycerol intoxication syndrome in young children, following the consumption of slush ice drinks.
Shona Lc Brothwell, Patricia E Fitzsimons, Adam Gerrard, Bernd C Schwahn, Christopher Stockdale, Sufin Yap

Arch Dis Child· July 2025

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Comment on: "An Early Cost-Utility Model of mRNA-Based Therapies for the Treatment of Methylmalonic and Propionic Acidemia in the United Kingdom".
Sue Perera, Geetanjoli Banerjee, Vanja Sikirica, Eliza Kruger, Emily Combe, Sufin Yap

Clin Drug Investig· July 2025

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Role of carglumic acid in the long-term management of propionic and methylmalonic acidurias.
Sufin Yap, Serena Gasperini, Shirou Matsumoto, François Feillet

Orphanet J Rare Dis· December 2024

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Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study.
Sufin Yap, Delphine Lamireau, Francois Feillet, Angeles Ruiz Gomez, James Davison

Drugs R D· March 2024

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"It's Just Always Eating": The Experiences of Young People Growing up Medium Chain Acyl-coA Dehydrogenase Deficiency.
Hilary Piercy, Charlotte Nutting, Sufin Yap

Glob Qual Nurs Res· August 2021

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Post-transplantation Outcomes in Patients with PA or MMA: A Review of the Literature.
Sufin Yap, Roshni Vara, Ana Morais

Adv Ther· May 2020

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What are the information needs of parents caring for a child with Glutaric aciduria type 1?
Hilary Piercy, Mildrid Yeo, Sufin Yap, Anthony R Hart

BMC Pediatr· October 2019

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Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.
Ili Syazwana Abdullah, Ser-Huy Teh, Fiqri Dizar Khaidizar, Lock-Hock Ngu, Wee-Teik Keng, Sufin Yap

Genes Genomics· August 2019

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-carbamoylglutamate-responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effects.
Sufin Yap, Nadine Gougeard, Anthony R Hart, Belén Barcelona, Vicente Rubio

JIMD Rep· July 2019

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N-Carbamylglutamate Is an Effective Treatment for Acute Neonatal Hyperammonaemia in a Patient with Methylmalonic Aciduria.
Sufin Yap, Huey Yin Leong, Fadzlina Abdul Aziz, Haszlin Hassim, Pavai Sthaneshwar

Neonatology· November 2017

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Cerebral venous sinus thrombosis in homocystinuria: Dietary intervention in conjunction with anticoagulation.
Sufin Yap, Deborah Annesley-Williams, Orla Hardiman

SAGE Open Med Case Rep· August 2017

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Management and investigation of neonatal encephalopathy: 2017 update.
Kathryn Martinello, Anthony R Hart, Sufin Yap, Subhabrata Mitra, Nicola J Robertson

Arch Dis Child Fetal Neonatal Ed· July 2017

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Parental Experiences of Raising a Child With Medium Chain Acyl-CoA Dehydrogenase Deficiency.
Hilary Piercy, Katarzyna Machaczek, Parveen Ali, Sufin Yap

Glob Qual Nurs Res· May 2017

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Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Andrew A M Morris, Viktor Kožich, Saikat Santra, Generoso Andria, Tawfeg I M Ben-Omran, Sufin Yap

J Inherit Metab Dis· January 2017

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Transient 5-oxoprolinuria: unusually high anion gap acidosis in an infant.
Sarah L Hulley, Jeff Perring, Nigel Manning, Simon Olpin, Sufin Yap

Eur J Pediatr· December 2015

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Succinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy: A Novel ALDH5A1 Mutation With Severe Phenotype.
Chee Geap Tay, Hany Ariffin, Sufin Yap, Kartini Rahmat, Pavai Sthaneshwar

J Child Neurol· June 2015

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New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition.
Eduardo Calpena, Anup Arunrao Deshpande, Sufin Yap, Akhilesh Kumar, Nigel J Manning

Eur J Pediatr· March 2015

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Varied phenotype of homocystinuria: possible diagnostic error.
Sufin Yap

Indian J Ophthalmol· July 2014

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Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.
Petr Vyletal, Jitka Sokolová, David N Cooper, Jan P Kraus, Michael Krawczak, Sufin Yap

Hum Mutat· March 2007

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Ocular axial length in homocystinuria patients with and without ocular changes: effects of early treatment and biochemical control.
Alan Mulvihill, Michael O'Keeffe, Sufin Yap, Eileen Naughten, Pamela Howard

J AAPOS· June 2004

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