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A/Prof Denise Goh

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  • Head & Senior Consultant, Division of Genetics and Metabolism, Department of Paediatrics, Khoo Teck Puat - National University Children's Medical Institute, National University Hospital
  • Associate Professor, Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore


MBBS (Hons) (S’pore), MMed (Paeds) (S’pore), FRCPCH (UK), MD (S’pore), FAMS (Paeds) (S’pore), Dip ABMG (US), FACMG (US)


Paediatric Medicine

Clinical Disciplines/Programmes:

Paediatric Genetics & Metabolism (Inherited Conditions)

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Associate Professor Denise Goh obtained her medical degree (MBBS Honours) from NUS in 1993. She received her general paediatrics training at NUH from 1994 to 1996 and graduated in 1996 with two postgraduate degrees in paediatrics (Masters of Medicine in Paediatrics and Membership of the Royal College of Physicians). In 1999, she went on to do a 3-year Post-Doctoral Fellowship in Medical Genetics at Johns Hopkins University, USA. In 2002, she obtained her board certification in biochemical genetics and became a Fellow of the American College of Medical Genetics and a diplomate of the American Board of Medical Genetics. She obtained her Doctorate in Medicine in 2002, and is a Fellow of the Academy of Singapore.

A/Prof Goh currently practises as a Senior Consultant. She is a paediatrician and heads the specialised clinical genetic service that provides dedicated and holistic care to children and adults with or at risk of genetic disorders. She is involved in helping patients who are in need of financial assistance – she is the Chairman of the NUH Children's Fund and a member of the NUH Children's Liver & Rare Diseases Fund.

A/Prof Goh provides genetic expertise to other organisations such as the Ministry of Health.

A/Prof Goh is an Associate Professor at NUS. She is the chair of the Faculty Assessment committee, Paediatric Undergraduate Medical Director and the genetics module leader for the NUS Yong Loo Lin School of Medicine. She is the co-editor of the textbook Paediatric differential diagnosis – Top 50 problems.

Her research areas include the diagnosis and management of genetic conditions.

Journals & Publications

  1. Paediatric Differential Diagnosis - Top 50 problems. Edited by Denise LM Goh, Elizabeth Y Ang. Elsevier 2018.
  2. Chin HL, Aw MM, Quak SH, Huang J, Hart CE, Prabhakaran K, Goh DL (2015). Two consecutive partial liver transplants in a patient with Classic Maple Syrup Urine Disease. Molecular Genetics and Metabolism Reports, 4:49-52. doi: 10.1016/j.ymgmr.2015.06.003
  3. Tan ML, Goh MC, Fu KX, Aw MH, Quak SH, Goh DL (2015). Severe vitamin B12 deficiency in a 7-month-old boy. Annals of the Academy of Medicine, Singapore, 44(3):109-11.
  4. Lim JS, Tan ES, John CM, Poh S, Yeo SJ, Ang JS, . . . Goh DL (2014). Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8 year journey from pilot to current program. Molecular Genetics and Metabolism Reports, 113(1-2):53-61. doi: 10.1016/j.ymgme.2014.07.018
  5. Cho SY, Goh DL, Lau KC, Ong HT, Lam CW (2014). Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency. Clinica Chimica Acta; International Journal of Clinical Chemistry, 426:13-7. doi: 10.1016/j.cca.2013.08.013

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