Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
4 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape.
Orphanet J Rare Dis. 2023 Mar 2;18(1):43. doi: 10.1186/s13023-023-02632-6.
Orphanet J Rare Dis. 2023.
PMID: 36859275
Free PMC article.
Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area.
Ling TK, Wong KC, Chan CY, Lau NK, Law CY, Lee HH, Lai CK, Chong YK, Yau KE, Cheung KM, Ko CH, Fung CW, Lee LK, Wong SS, Mak CM, Chan AY, Tam S, Lam CW.
Ling TK, et al. Among authors: yau ke.
Clin Chim Acta. 2021 Oct;521:40-44. doi: 10.1016/j.cca.2021.06.025. Epub 2021 Jun 20.
Clin Chim Acta. 2021.
PMID: 34161777
Item in Clipboard
Successful Adaptation of Targeted Gene Panel Next-Generation Sequencing in Regional Hospital in Hong Kong: Genomic Diagnosis of SCN2A-Related Seizure Disorder.
Lee HH, Lau NK, Yeung CW, Ng SG, Yau KE, Mak CM.
Lee HH, et al. Among authors: yau ke.
Chin Med J (Engl). 2018 Sep 20;131(18):2262-2264. doi: 10.4103/0366-6999.240812.
Chin Med J (Engl). 2018.
PMID: 30203812
Free PMC article.
No abstract available.
Item in Clipboard
Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese.
Lee HH, Wong S, Leung FY, Ho LC, Chan ST, Fung TS, Kwan KF, Yau KE, Li KW, Yau WN, Leung HC, Chen SP, Mak CM.
Lee HH, et al. Among authors: yau ke.
J Neuropathol Exp Neurol. 2019 Sep 1;78(9):854-864. doi: 10.1093/jnen/nlz056.
J Neuropathol Exp Neurol. 2019.
PMID: 31360996
Item in Clipboard
Cite
Cite