Results 131 to 140 of about 3,871 (190)

Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan. [PDF]

JIMD Rep
Okamoto N, Kadoya M, Wada Y.
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

Advancement in Clinical Glycomics and Glycoproteomics for Congenital Disorders of Glycosylation: Progress and Challenges Ahead. [PDF]

Biomedicines
Abu Bakar N, Hamzan NI.
europepmc   +1 more source

Causes of mortality in the congenital disorders of glycosylation. [PDF]

Mol Genet Metab
Alharbi H, Horikoshi S, Jenkins SM, Scaglia F, Lam C, Morava E, Larson A, Edmondson AC.   +7 more
europepmc   +1 more source

KIAA0319 modulates Alzheimer's disease risk through PMM2 regulation: Evidence from integrated pQTL-mediation and transcriptomic analyses. [PDF]

J Alzheimers Dis Rep
Wen P, Han C, Zhao H, Yao S, Chen H.
europepmc   +1 more source

O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorder. [PDF]

Cell Rep
Matheny-Rabun C, Mokashi SS, Radenkovic S, Wiggins K, Dukes-Rimsky L, Angel P, Ghesquiere B, Kozicz T, Steet R, Morava E, Flanagan-Steet H.   +10 more
europepmc   +1 more source

Letter to the Editor Response. [PDF]

J Neurosurg Case Lessons
Nomura Y, Morita T, Ueno K, Watanabe R, Katagai T, Asano K, Saito A.   +6 more
europepmc   +1 more source

Endocrine Implications of Congenital Disorders of Glycosylation [PDF]

J Clin Res Pediatr Endocrinol
Ünsal Y, Özön ZA.
europepmc   +1 more source

Plasma membrane calcium ATPases and cerebellar pathology: what's the role in the ataxia? [PDF]

Biol Direct
Peggion C, Marchionni I, Carafoli E, Brini M, Calì T.   +4 more
europepmc   +1 more source

Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG). [PDF]

J Inherit Metab Dis
Weixel T, Adedipe D, Muldoon G, Lam C, Krasnewich D, Thurm A, Wolfe L.   +6 more
europepmc   +1 more source