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

Text availability

Article attribute

Article type

Publication date

Search Results

500 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Multiple phenotypes in phosphoglucomutase 1 deficiency.
Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforêt P, Petit F, Aumaître O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T. Tegtmeyer LC, et al. Among authors: petit f. N Engl J Med. 2014 Feb 6;370(6):533-42. doi: 10.1056/NEJMoa1206605. N Engl J Med. 2014. PMID: 24499211 Free PMC article.
Muscle glycogenosis due to phosphoglucomutase 1 deficiency.
Stojkovic T, Vissing J, Petit F, Piraud M, Orngreen MC, Andersen G, Claeys KG, Wary C, Hogrel JY, Laforêt P. Stojkovic T, et al. Among authors: petit f. N Engl J Med. 2009 Jul 23;361(4):425-7. doi: 10.1056/NEJMc0901158. N Engl J Med. 2009. PMID: 19625727 No abstract available.
Glucose-6-phosphatase deficiency.
Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P. Froissart R, et al. Among authors: petit f. Orphanet J Rare Dis. 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. Orphanet J Rare Dis. 2011. PMID: 21599942 Free PMC article. Review.
500 results