Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Denise Li Meng Goh"'
Autor:
Jerold Loh, Pei Yi Ong, Denise Li Meng Goh, Mark E. Puhaindran, Balamurugan A. Vellayappan, Samuel Guan Wei Ow, Gloria Chan, Soo-Chin Lee
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 20, Iss 1, Pp 1-11 (2022)
Abstract Background Peripheral Nerve Sheath Tumors (PNST) are a diverse group of mostly benign tumours uncommon in the general population. About 5–10% of PNSTs are hereditary, predominantly arising from germline variants in NF1, NF2, SMARCB1, or LZ
Externí odkaz:
https://doaj.org/article/23394bbd98f1439493664c22de883de6
Autor:
Dujeepa D. Samarasekera, Denise Li Meng Goh, Su Ping Yeo, Nicola Siew Pei Ngiam, Marion M. Aw, Mei Mei Lim, Suresh Pillai, Shuh Shing Lee, Malcolm Mahadevan, Alfred Kow, Yap Seng Chong, Tang Ching Lau
Publikováno v:
MedEdPublish, Vol 9, Iss 1 (2020)
Background: Healthcare professionals are playing an important role in the recent COVID-19 outbreak. It is crucial that the health systems maintain their ability to train students and residents during this time. However, there is a paucity of literatu
Externí odkaz:
https://doaj.org/article/e4731b31ae7f49a4855dbca686976c72
Publikováno v:
Journal of Medical Case Reports, Vol 12, Iss 1, Pp 1-5 (2018)
Abstract Background Urea cycle disorders are secondary to defects in the system converting ammonia into urea, causing accumulation of ammonia and other byproducts which are neurotoxic. Ornithine transcarbamylase deficiency is the most common of the u
Externí odkaz:
https://doaj.org/article/368fa4574a4843d7bd378b8c3190bab7
Autor:
Chew Thye Choong MBBS, MMED (Paed), Claire Hart MSc Clinical Biochemistry, FRCPath, Ee Shien Tan MBBS, MMED (Paed), Denise Li Meng Goh MBBS, MMED (Paed)
Publikováno v:
Proceedings of Singapore Healthcare, Vol 19 (2010)
Isolated sulphite oxidase deficiency (SOD) is a rare genetic neurometabolic disorder characterised by intractable seizures and progressive severe neurological dysfunction. Affected children commonly present at or soon after birth with seizures and ne
Externí odkaz:
https://doaj.org/article/e915b089234a42f3bc3887fc3b6f47cc
Publikováno v:
Frontiers in neurology. 13
The diagnosis of inherited neuromuscular disorders is challenging due to their genetic and phenotypic variability. Traditionally, neurophysiology and histopathology were primarily used in the initial diagnostic approach to these conditions. Sanger se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e93011e3eca216d665e7836c6f266c55
https://pubmed.ncbi.nlm.nih.gov/36313509
https://pubmed.ncbi.nlm.nih.gov/36313509
Autor:
Jerold Loh, Pei Yi Ong, Denise Li Meng Goh, Mark E. Puhaindran, Balamurugan A. Vellayappan, Samuel Guan Wei Ow, Gloria Chan, Soo-Chin Lee
Publikováno v:
Hereditary cancer in clinical practice. 20(1)
Background Peripheral Nerve Sheath Tumors (PNST) are a diverse group of mostly benign tumours uncommon in the general population. About 5–10% of PNSTs are hereditary, predominantly arising from germline variants in NF1, NF2, SMARCB1, or LZTR1 gene.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f071f06a0e58a505ed5ce948339112cc
https://pubmed.ncbi.nlm.nih.gov/35698239
https://pubmed.ncbi.nlm.nih.gov/35698239
Autor:
Hui-Lin Chin, Denise Li Meng Goh
Publikováno v:
Singapore Medical Journal; Jan2023, Vol. 64 Issue 1, p53-58, 6p
Publikováno v:
The Indian Journal of Pediatrics. 88:64-66
Sulphite oxidase deficiency is an extremely rare inborn error of metabolism of sulphur containing amino acids. There are no reports of liver involvement in this condition. The authors describe a 9-y-old boy with known sulphite oxidase deficiency who
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2719f9df087489ae8246b79264875a95
https://doi.org/10.1007/s12098-020-03428-3
https://doi.org/10.1007/s12098-020-03428-3
Autor:
Suha Salim, Peter I. Benke, Friedhelm Hildebrandt, Khalid Alhasan, Stacey Kiat Hong Tay, Abdullah A. Alangari, Isaac Desheng Liu, Federico Torta, Nicole Weaver, Bonnie Sullivan, Karin Chen, Piming Zhao, Megan A. Cooper, Emily Tang, Alwin Loh, Markus R. Wenk, Jeffrey B. Hodgin, James A. Endrizzi, Weixing Ou, Jeremy Selva, Julie D. Saba, Olivia West, Austin Larson, Evren Gumus, Hui Kim Yap, Martin Zenker, Denise Li Meng Goh
Publikováno v:
J Inherit Metab Dis
Sphingosine-1-phosphate (S1P) lyase is a vitamin B6-dependent enzyme that degrades sphingosine-1-phosphate in the final step of sphingolipid metabolism. In 2017, a new inherited disorder was described caused by mutations in SGPL1, which encodes sphin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ebc6a97179986bd6bad6306c3e16592
https://pubmed.ncbi.nlm.nih.gov/32233035
https://pubmed.ncbi.nlm.nih.gov/32233035
Autor:
Alan Sze Kiat, Ong, Marion Margaret, Aw, Denise Li-Meng, Goh, Sivaramakrishnan Venkatesh, Karthik
Publikováno v:
Indian journal of pediatrics. 88(1)
Sulphite oxidase deficiency is an extremely rare inborn error of metabolism of sulphur containing amino acids. There are no reports of liver involvement in this condition. The authors describe a 9-y-old boy with known sulphite oxidase deficiency who
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0ad02f5297f98c608efa4c22d8653206
https://pubmed.ncbi.nlm.nih.gov/33205359
https://pubmed.ncbi.nlm.nih.gov/33205359