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
1987 1
1996 1
2004 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

3 results

Results by year

Filters applied: . Clear all
Page 1
Decreased plasma carnitine and trimethyl-L-lysine levels associated with lysosomal accumulation of a trimethyl-L-lysine containing protein in Batten disease.
Katz ML. Katz ML. Biochim Biophys Acta. 1996 Dec 16;1317(3):192-8. doi: 10.1016/s0925-4439(96)00054-3. Biochim Biophys Acta. 1996. PMID: 8988235 Free article.
It is possible that trimethylated subunit c is a major source of the free TML used in carnitine biosynthesis. If this is the case, one would predict that the genetic defect resulting in the accumulation of TML containing subunit c would also reduce systemic levels of free …
It is possible that trimethylated subunit c is a major source of the free TML used in carnitine biosynthesis. If this is the case, one would …
Effect of chronic valproic acid treatment on plasma and urine carnitine levels in children: decreased urinary excretion.
Melegh B, Kerner J, Kispál G, Acsádi G, Dani M. Melegh B, et al. Acta Paediatr Hung. 1987;28(2):137-42. Acta Paediatr Hung. 1987. PMID: 3122798
After the 2nd day a decrease of the total and free fraction was observed, confirming previous data obtained during chronic VPA treatment. It has been concluded that the decreased plasma carnitine associated with chronic VPA treatment is not a result of …
After the 2nd day a decrease of the total and free fraction was observed, confirming previous data obtained during chronic VPA treatm …
Phenotypic manifestations of the OCTN2 V295X mutation: sudden infant death and carnitine-responsive cardiomyopathy in Roma families.
Melegh B, Bene J, Mogyorósy G, Havasi V, Komlósi K, Pajor L, Oláh E, Kispál G, Sumegi B, Méhes K. Melegh B, et al. Am J Med Genet A. 2004 Dec 1;131(2):121-6. doi: 10.1002/ajmg.a.30207. Am J Med Genet A. 2004. PMID: 15487009
In two non-consanguineous Hungarian Roma (Gypsy) children who presented with cardiomyopathy and decreased plasma carnitine levels, we identified homozygous deletion of 17081C of the SLC22A5 gene that results in a frameshift at R282D and leads ultimately to a …
In two non-consanguineous Hungarian Roma (Gypsy) children who presented with cardiomyopathy and decreased plasma carnitine …