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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

34 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.
Ryder B, Inbar-Feigenberg M, Glamuzina E, Halligan R, Vara R, Elliot A, Coman D, Minto T, Lewis K, Schiff M, Vijay S, Akroyd R, Thompson S, MacDonald A, Woodward AJM, Gribben JEL, Grunewald S, Belaramani K, Hall M, van der Haak N, Devanapalli B, Tolun AA, Wilson C, Bhattacharya K. Ryder B, et al. Among authors: glamuzina e. J Inherit Metab Dis. 2021 Jul;44(4):903-915. doi: 10.1002/jimd.12371. Epub 2021 Mar 29. J Inherit Metab Dis. 2021. PMID: 33634872
Update on transcobalamin deficiency: clinical presentation, treatment and outcome.
Trakadis YJ, Alfares A, Bodamer OA, Buyukavci M, Christodoulou J, Connor P, Glamuzina E, Gonzalez-Fernandez F, Bibi H, Echenne B, Manoli I, Mitchell J, Nordwall M, Prasad C, Scaglia F, Schiff M, Schrewe B, Touati G, Tchan MC, Varet B, Venditti CP, Zafeiriou D, Rupar CA, Rosenblatt DS, Watkins D, Braverman N. Trakadis YJ, et al. Among authors: glamuzina e. J Inherit Metab Dis. 2014 May;37(3):461-73. doi: 10.1007/s10545-013-9664-5. Epub 2013 Dec 5. J Inherit Metab Dis. 2014. PMID: 24305960
The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment.
Ryder B, Knoll D, Love DR, Shepherd P, Love JM, Reed PW, de Hora M, Webster D, Glamuzina E, Wilson C. Ryder B, et al. Among authors: glamuzina e. J Inherit Metab Dis. 2016 May;39(3):409-414. doi: 10.1007/s10545-015-9911-z. Epub 2016 Jan 7. J Inherit Metab Dis. 2016. PMID: 26743058
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.
Michot C, Hubert L, Romero NB, Gouda A, Mamoune A, Mathew S, Kirk E, Viollet L, Rahman S, Bekri S, Peters H, McGill J, Glamuzina E, Farrar M, von der Hagen M, Alexander IE, Kirmse B, Barth M, Laforet P, Benlian P, Munnich A, JeanPierre M, Elpeleg O, Pines O, Delahodde A, de Keyzer Y, de Lonlay P. Michot C, et al. Among authors: glamuzina e. J Inherit Metab Dis. 2012 Nov;35(6):1119-28. doi: 10.1007/s10545-012-9461-6. Epub 2012 Apr 6. J Inherit Metab Dis. 2012. PMID: 22481384
Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.
Hedberg-Oldfors C, Glamuzina E, Ruygrok P, Anderson LJ, Elliott P, Watkinson O, Occleshaw C, Abernathy M, Turner C, Kingston N, Murphy E, Oldfors A. Hedberg-Oldfors C, et al. Among authors: glamuzina e. J Inherit Metab Dis. 2017 Jan;40(1):139-149. doi: 10.1007/s10545-016-9978-1. Epub 2016 Oct 7. J Inherit Metab Dis. 2017. PMID: 27718144 Free PMC article.
Plasma ammonia concentrations in extremely low birthweight infants in the first week after birth: secondary analysis from the ProVIDe randomized clinical trial.
Cormack BE, Jiang Y, Harding JE, Crowther CA, Lynn A, Nair A, Hewson M, Meyer M, Broadbent R, Webster D, Glamuzina E, Ryder B, Bloomfield FH. Cormack BE, et al. Among authors: glamuzina e. Pediatr Res. 2020 Aug;88(2):250-256. doi: 10.1038/s41390-019-0730-z. Epub 2020 Jan 2. Pediatr Res. 2020. PMID: 31896121 Free PMC article. Clinical Trial.
34 results