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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2018 | 1 |
2019 | 3 |
2020 | 1 |
2024 | 0 |
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Page 1
Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis.
Dev Med Child Neurol. 2020 Apr;62(4):528-530. doi: 10.1111/dmcn.14346. Epub 2019 Sep 5.
Dev Med Child Neurol. 2020.
PMID: 31489614
Free article.
One-year follow-up of B vitamin and Iron status in patients with phenylketonuria provided tetrahydrobiopterin (BH4).
Brantley KD, Douglas TD, Singh RH.
Brantley KD, et al.
Orphanet J Rare Dis. 2018 Oct 30;13(1):192. doi: 10.1186/s13023-018-0923-2.
Orphanet J Rare Dis. 2018.
PMID: 30373601
Free PMC article.
Clinical Trial.
Item in Clipboard
Neurofilament light is a treatment-responsive biomarker in CLN2 disease.
Ru Y, Corado C, Soon RK Jr, Melton AC, Harris A, Yu GK, Pryer N, Sinclair JR, Katz ML, Ajayi T, Jacoby D, Russell CB, Chandriani S.
Ru Y, et al.
Ann Clin Transl Neurol. 2019 Dec;6(12):2437-2447. doi: 10.1002/acn3.50942. Epub 2019 Dec 8.
Ann Clin Transl Neurol. 2019.
PMID: 31814335
Free PMC article.
Clinical Trial.
Item in Clipboard
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
Gardner E, Bailey M, Schulz A, Aristorena M, Miller N, Mole SE.
Gardner E, et al.
Hum Mutat. 2019 Nov;40(11):1924-1938. doi: 10.1002/humu.23860. Epub 2019 Jul 26.
Hum Mutat. 2019.
PMID: 31283065
Free PMC article.
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