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1968
2025

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Year Number of Results
1968 1
1985 1
1993 1
1998 1
2000 1
2004 1
2017 1
2018 2
2019 1
2025 0

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Page 1
Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency.
Peters V, Zschocke J, Schmitt CP. Peters V, et al. J Inherit Metab Dis. 2018 Jan;41(1):39-47. doi: 10.1007/s10545-017-0099-2. Epub 2017 Oct 13. J Inherit Metab Dis. 2018. PMID: 29027595 Review.
Loss of CN1 function (also called carnosinase deficiency or aminoacyl-histidine dipeptidase deficiency) has been reported in a small number of patients with highly elevated blood carnosine concentrations, denoted carnosinaemia; it is unclear whether the variety of clinical …
Loss of CN1 function (also called carnosinase deficiency or aminoacyl-histidine dipeptidase deficiency) has been reported in a small number …
Pivotal role of carnosine in the modulation of brain cells activity: Multimodal mechanism of action and therapeutic potential in neurodegenerative disorders.
Caruso G, Caraci F, Jolivet RB. Caruso G, et al. Prog Neurobiol. 2019 Apr;175:35-53. doi: 10.1016/j.pneurobio.2018.12.004. Epub 2018 Dec 26. Prog Neurobiol. 2019. PMID: 30593839 Review.
Although discovered more than a hundred years ago and having been extensively studied in the periphery, the role of carnosine in the brain remains mysterious. Carnosinemia, a rare metabolic disorder with increased levels of carnosine in urine and low levels or absence of c …
Although discovered more than a hundred years ago and having been extensively studied in the periphery, the role of carnosine in the brain r …
Inherited disorders of GABA metabolism.
Jakobs C, Jaeken J, Gibson KM. Jakobs C, et al. J Inherit Metab Dis. 1993;16(4):704-15. doi: 10.1007/BF00711902. J Inherit Metab Dis. 1993. PMID: 8412016 Review.
glutamic acid decarboxylase deficiency) (> 50 patients); (2) GABA-transaminase deficiency (2 patients/1 family); (3) succinic semialdehyde dehydrogenase deficiency (32 patients/21 families); and (4) homocarnosinosis associated with serum carnosinase deficiency (3 patien …
glutamic acid decarboxylase deficiency) (> 50 patients); (2) GABA-transaminase deficiency (2 patients/1 family); (3) succinic semialdehyd …
Clinical aspects of the disorders of GABA metabolism in children.
Pearl PL, Gibson KM. Pearl PL, et al. Curr Opin Neurol. 2004 Apr;17(2):107-13. doi: 10.1097/00019052-200404000-00005. Curr Opin Neurol. 2004. PMID: 15021235 Review.
RECENT FINDINGS: The known clinical disorders of GABA metabolism are pyridoxine dependent epilepsy, GABA-transaminase deficiency, SSADH deficiency, and homocarnosinosis. Pyridoxine dependent epilepsy is diagnosed clinically but potentially more common presentations, with l …
RECENT FINDINGS: The known clinical disorders of GABA metabolism are pyridoxine dependent epilepsy, GABA-transaminase deficiency, SSADH defi …
[Carnosinemia].
Matsumura R. Matsumura R. Ryoikibetsu Shokogun Shirizu. 2000;(29 Pt 4):397. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11031981 Review. Japanese. No abstract available.
[Carnosinemia].
David M. David M. Pediatrie. 1968 Jan-Feb;23(1):117-9. Pediatrie. 1968. PMID: 4907174 Review. French. No abstract available.
Carnosinase and homocarnosinosis.
Lenney JF. Lenney JF. J Oslo City Hosp. 1985 Feb-Mar;35(2-3):27-40. J Oslo City Hosp. 1985. PMID: 3891936 Review. No abstract available.
[Serum carnosinase deficiency and homocarnosinosis].
Hamajima N, Wada Y. Hamajima N, et al. Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):252-4. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9590040 Review. Japanese. No abstract available.