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
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2019 | 3 |
2021 | 1 |
2022 | 1 |
2023 | 1 |
2024 | 0 |
Search Results
5 results
Results by year
Filters applied: . Clear all
It looks like you are searching for an author.
Results are currently sorted by Best Match. To see the newest results first,
change the sort order to Most Recent.
Page 1
Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders.
Genes (Basel). 2023 Sep 21;14(9):1828. doi: 10.3390/genes14091828.
Genes (Basel). 2023.
PMID: 37761968
Free PMC article.
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
Bertoli-Avella A, Hotakainen R, Al Shehhi M, Urzi A, Pareira C, Marais A, Al Shidhani K, Aloraimi S, Morales-Torres G, Fisher S, Demuth L, Moteleb Selim LA, Al Menabawy N, Busehail M, AlShaikh M, Gilani N, Chalabi DN, Alharbi NS, Alfadhel M, Abdelrahman M, Venselaar H, Anjum N, Saeed A, Alghamdi MA, Aljaedi H, Arabi H, Karageorgou V, Khan S, Hajjari Z, Radefeldt M, Al-Ali R, Tripolszki K, Jamhawi A, Paknia O, Cozma C, Cheema H, Ameziane N, Al-Muhsen S, Bauer P.
Bertoli-Avella A, et al. Among authors: demuth l.
J Med Genet. 2022 Oct;59(10):993-1001. doi: 10.1136/jmedgenet-2021-108150. Epub 2021 Dec 24.
J Med Genet. 2022.
PMID: 34952832
Free PMC article.
Item in Clipboard
Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease.
Dinur T, Zimran A, Becker-Cohen M, Arkadir D, Cozma C, Hovakimyan M, Oppermann S, Demuth L, Rolfs A, Revel-Vilk S.
Dinur T, et al. Among authors: demuth l.
J Clin Med. 2019 Oct 11;8(10):1662. doi: 10.3390/jcm8101662.
J Clin Med. 2019.
PMID: 31614613
Free PMC article.
Item in Clipboard
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.
Cozma C, Hovakimyan M, Iurașcu MI, Makhseed N, Selim LA, Alhashem AM, Ben-Omran T, Mahmoud IG, Al Menabawy NM, Al-Mureikhi M, Martin M, Demuth L, Yüksel Z, Beetz C, Bauer P, Rolfs A.
Cozma C, et al. Among authors: demuth l.
Orphanet J Rare Dis. 2019 Aug 27;14(1):209. doi: 10.1186/s13023-019-1183-5.
Orphanet J Rare Dis. 2019.
PMID: 31455396
Free PMC article.
Item in Clipboard
Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease.
Hurvitz N, Dinur T, Becker-Cohen M, Cozma C, Hovakimyan M, Oppermann S, Demuth L, Rolfs A, Abramov A, Zimran A, Revel-Vilk S.
Hurvitz N, et al. Among authors: demuth l.
Int J Mol Sci. 2019 Jun 21;20(12):3033. doi: 10.3390/ijms20123033.
Int J Mol Sci. 2019.
PMID: 31234327
Free PMC article.
Item in Clipboard
Cite
Cite