Results 81 to 90 of about 24,745,339 (132)

Congenital disorders of glycosylation: narration of a story through its patents. [PDF]

Orphanet J Rare Dis, 2023
Monticelli M, D'Onofrio T, Jaeken J, Morava E, Andreotti G, Cubellis MV.   +5 more
europepmc   +1 more source

Faculty Opinions recommendation of Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2019
openaire   +2 more sources

Vaccination of children with inborn errors of metabolism: safety, immunogenicity, and practical implications. [PDF]

Eur J Pediatr
Lipiński P, Jaczewska M, Jackowska T.
europepmc   +1 more source

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases. [PDF]

Orphanet J Rare Dis
Douillard C, Poujois A, Belmatoug N, Lidove O, Leguy-Seguin V, Mauhin W, Gorce M, Cano A, Labrune P, Mazodier K, Wicker C, Maillot F, Brassier A, Guemann AS, Habes D, Abi-Warde MT, Redonnet-Vernhet I, Germain DP, Lavigne C, Khemiri A, Mention K, Dao M, Héron B, Berger MG, Lonlay P.   +24 more
europepmc   +1 more source

A Mild Ataxia-Dominant Phenotype of Phosphomannomutase 2-Congenital Disorder of Glycosylation in a Tunisian Family: Broadening the Geographical Scope. [PDF]

J Mov Disord
Zouari R, Hlioui L, Saied MZ, Ben Mohamed D, Ben Sassi S, Amouri R.   +5 more
europepmc   +1 more source

Phosphomannomutase 1 restrains adipose thermogenic programming via inosine signaling. [PDF]

Mol Metab
Ye Y, Xu R, Liu T, Su Y, Lu X, Sun J, Zhao J, Lu Y, Yang Y, Han J.   +9 more
europepmc   +1 more source

Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation. [PDF]

JCEM Case Rep
Ødum SF, Grønborg SW, Main KM, Klose M.   +3 more
europepmc   +1 more source

Glycogen and Glycosylation: Friends or Foes? [PDF]

Biomolecules
Konada RSR, Osborn J, Mitra S.
europepmc   +1 more source

Peroxisomal fatty acid oxidation-related signature for predicting prognosis and therapeutic response in low-grade glioma. [PDF]

Front Oncol
Zhou X, Liang H, Huang Q.
europepmc   +1 more source

Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes. [PDF]

Front Endocrinol (Lausanne)
Del Medico G, Ferri L, Procopio E, Annibalini G, Barbieri E, Barone R, Guerrini R, Morrone A, Stagi S.   +8 more
europepmc   +1 more source