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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1989 1
2004 1
2015 1
2016 1
2020 2
2021 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

5 results

Results by year

Filters applied: . Clear all
Page 1
Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia.
Becker PH, Demir Z, Mozer Glassberg Y, Sevin C, Habes D, Imbard A, Mussini C, Rozenfeld Bar Lev M, Davit-Spraul A, Benoist JF, Thérond P, Slama A, Jacquemin E, Gonzales E, Gaignard P. Becker PH, et al. Mol Genet Metab. 2021 Jan;132(1):38-43. doi: 10.1016/j.ymgme.2020.11.007. Epub 2020 Nov 28. Mol Genet Metab. 2021. PMID: 33309011
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.
Staufner C, Lindner M, Dionisi-Vici C, Freisinger P, Dobbelaere D, Douillard C, Makhseed N, Straub BK, Kahrizi K, Ballhausen D, la Marca G, Kölker S, Haas D, Hoffmann GF, Grünert SC, Blom HJ. Staufner C, et al. J Inherit Metab Dis. 2016 Mar;39(2):273-83. doi: 10.1007/s10545-015-9904-y. Epub 2015 Dec 7. J Inherit Metab Dis. 2016. PMID: 26642971
BACKGROUND: Adenosine kinase deficiency is a recently described defect affecting methionine metabolism with a severe clinical phenotype comprising mainly neurological and hepatic impairment and dysmorphism. METHODS: Clinical data of 11 additional patients fro …
BACKGROUND: Adenosine kinase deficiency is a recently described defect affecting methionine metabolism with a severe cl …