Sufin Yap

Sufin Yap

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Sufin Yap

Sufin Yap

Publications by authors named "Sufin Yap"

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14Publications

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

BMC Pediatr 2019 Oct 13;19(1):349. Epub 2019 Oct 13.

Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.

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http://dx.doi.org/10.1186/s12887-019-1742-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790240PMC
October 2019

Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.

Genes Genomics 2019 08 26;41(8):885-893. Epub 2019 Apr 26.

Genetics and Molecular Biology Unit, Institute of Biological Sciences, Faculty of Science, University of Malaya, 50603, Kuala Lumpur, Malaysia.

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http://link.springer.com/10.1007/s13258-019-00815-9
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http://dx.doi.org/10.1007/s13258-019-00815-9DOI Listing
August 2019

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

JIMD Rep 2019 Jul 2;48(1):36-44. Epub 2019 May 2.

Structural Enzymopathology Unit Instituto de Biomedicina de Valencia of the CSIC (IBV-CSIC) Valencia Spain.

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http://dx.doi.org/10.1002/jmd2.12034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606979PMC
July 2019

N-Carbamylglutamate Is an Effective Treatment for Acute Neonatal Hyperammonaemia in a Patient with Methylmalonic Aciduria.

Neonatology 2016 24;109(4):303-7. Epub 2016 Feb 24.

Department of Inherited Metabolic Diseases, Sheffield Children's Hospital, NHS Foundation Trust, Sheffield, UK.

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http://dx.doi.org/10.1159/000443630DOI Listing
November 2017

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

SAGE Open Med Case Rep 2017 1;5:2050313X17722289. Epub 2017 Aug 1.

Department of Neurology, Beaumont Hospital, Dublin, UK.

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http://dx.doi.org/10.1177/2050313X17722289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5542071PMC
August 2017

Management and investigation of neonatal encephalopathy: 2017 update.

Arch Dis Child Fetal Neonatal Ed 2017 Jul 6;102(4):F346-F358. Epub 2017 Apr 6.

Department of Neonatology, Institute for Women's Health, University College London, UK.

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http://dx.doi.org/10.1136/archdischild-2015-309639DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537522PMC
July 2017

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

Glob Qual Nurs Res 2017 Jan-Dec;4:2333393617707080. Epub 2017 May 3.

Sheffield Children's Teaching Hospital NHS Foundation Trust, United Kingdom.

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http://dx.doi.org/10.1177/2333393617707080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5419063PMC
May 2017

Transient 5-oxoprolinuria: unusually high anion gap acidosis in an infant.

Eur J Pediatr 2015 Dec 1;174(12):1685-8. Epub 2015 Jul 1.

Sheffield Children's NHS Foundation Trust, Sheffield Children's Hospital, Western Bank, Sheffield, S10 2TH, UK.

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http://search.proquest.com/openview/cdf7402225642c880fdcf820
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http://dx.doi.org/10.1007/s00431-015-2585-6DOI Listing
December 2015

Succinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy: A Novel ALDH5A1 Mutation With Severe Phenotype.

J Child Neurol 2015 Jun 13;30(7):927-31. Epub 2014 Aug 13.

Department of Paediatrics, Faculty of Medicine, University Malaya, Malaysia.

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http://dx.doi.org/10.1177/0883073814540523DOI Listing
June 2015

New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition.

Eur J Pediatr 2015 Mar 17;174(3):407-11. Epub 2014 Aug 17.

Program in Rare and Genetic Diseases, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain,

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http://link.springer.com/10.1007/s00431-014-2397-0
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http://dx.doi.org/10.1007/s00431-014-2397-0DOI Listing
March 2015

Varied phenotype of homocystinuria: possible diagnostic error.

Authors:
Sufin Yap

Indian J Ophthalmol 2014 Jul;62(7):835

Department of Inherited Metabolic Diseases, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield S10 2TH, United Kingdom.

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http://www.ijo.in/text.asp?2014/62/7/835/138637
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http://dx.doi.org/10.4103/0301-4738.138637DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4152666PMC
July 2014