Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

100 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Expanded newborn screening in New South Wales: missed cases.
Estrella J, Wilcken B, Carpenter K, Bhattacharya K, Tchan M, Wiley V. Estrella J, et al. Among authors: tchan m. J Inherit Metab Dis. 2014 Nov;37(6):881-7. doi: 10.1007/s10545-014-9727-2. Epub 2014 Jun 27. J Inherit Metab Dis. 2014. PMID: 24970580
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.
McMillan HJ, Telegrafi A, Singleton A, Cho MT, Lelli D, Lynn FC, Griffin J, Asamoah A, Rinne T, Erasmus CE, Koolen DA, Haaxma CA, Keren B, Doummar D, Mignot C, Thompson I, Velsher L, Dehghani M, Vahidi Mehrjardi MY, Maroofian R, Tchan M, Simons C, Christodoulou J, Martín-Hernández E, Guillen Sacoto MJ, Henderson LB, McLaughlin H, Molday LL, Molday RS, Yoon G. McMillan HJ, et al. Among authors: tchan m. Orphanet J Rare Dis. 2018 May 31;13(1):86. doi: 10.1186/s13023-018-0825-3. Orphanet J Rare Dis. 2018. PMID: 30012219 Free PMC article.
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
van Rijt WJ, Jager EA, Allersma DP, Aktuğlu Zeybek AÇ, Bhattacharya K, Debray FG, Ellaway CJ, Gautschi M, Geraghty MT, Gil-Ortega D, Larson AA, Moore F, Morava E, Morris AA, Oishi K, Schiff M, Scholl-Bürgi S, Tchan MC, Vockley J, Witters P, Wortmann SB, van Spronsen F, Van Hove JLK, Derks TGJ. van Rijt WJ, et al. Among authors: tchan mc. Genet Med. 2020 May;22(5):908-916. doi: 10.1038/s41436-019-0739-z. Epub 2020 Jan 6. Genet Med. 2020. PMID: 31904027 Free PMC article.
Intronic variants in inborn errors of metabolism: Beyond the exome.
Hertzog A, Selvanathan A, Farnsworth E, Tchan M, Adams L, Lewis K, Tolun AA, Bennetts B, Ho G, Bhattacharya K. Hertzog A, et al. Among authors: tchan m. Front Genet. 2022 Dec 6;13:1031495. doi: 10.3389/fgene.2022.1031495. eCollection 2022. Front Genet. 2022. PMID: 36561316 Free PMC article.
Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases.
Thompson S, Hertzog A, Selvanathan A, Batten K, Lewis K, Nisbet J, Mitchell A, Dalkeith T, Billmore K, Moore F, Tolun AA, Devanapalli B, Bratkovic D, Hilditch C, Rahman Y, Tchan M, Bhattacharya K. Thompson S, et al. Among authors: tchan m. Nutrients. 2023 Jan 19;15(3):531. doi: 10.3390/nu15030531. Nutrients. 2023. PMID: 36771238 Free PMC article. Review.
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series.
Horovitz DD, Acosta AX, Giugliani R, Hlavatá A, Hlavatá K, Tchan MC, Lopes Barth A, Cardoso L Jr, Embiruçu de Araújo Leão EK, Esposito AC, Kyosen SO, De Souza CF, Martins AM. Horovitz DD, et al. Orphanet J Rare Dis. 2016 Apr 29;11(1):51. doi: 10.1186/s13023-016-0437-8. Orphanet J Rare Dis. 2016. PMID: 27129473 Free PMC article.
Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.
Kumar KR, Davis RL, Tchan MC, Wali GM, Mahant N, Ng K, Kotschet K, Siow SF, Gu J, Walls Z, Kang C, Wali G, Levy S, Phua CS, Yiannikas C, Darveniza P, Chang FCF, Morales-Briceño H, Rowe DB, Drew A, Gayevskiy V, Cowley MJ, Minoche AE, Tisch S, Hayes M, Kummerfeld S, Fung VSC, Sue CM. Kumar KR, et al. Among authors: tchan mc. Parkinsonism Relat Disord. 2019 Dec;69:111-118. doi: 10.1016/j.parkreldis.2019.11.004. Epub 2019 Nov 7. Parkinsonism Relat Disord. 2019. PMID: 31731261 Free article.
100 results