Results 111 to 120 of about 1,755 (160)

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

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation. [PDF]

Sci Adv
Wang R, Wang F, DeBruyne N, Ji X, Engelhardt NM, Park JJ, Notaro A, Gaerlan S, Park R, Schultz MJ, Clever S, McCormick EM, Keith K, Ng BG, Kadash-Edmondson KE, Freeze HH, Lam CT, Morava E, Helbig I, Falk MJ, Ganetzky RD, Edmondson AC, Lin L, Xing Y.   +23 more
europepmc   +1 more source

Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes. [PDF]

Mol Genet Metab
Verberkmoes S, Mazza GL, Edmondson AC, Scaglia F, Horikoshi S, Kuschel B, Janssen MCH, Mousa J, Larson A, Shah R, McDonald G, Sarafoglou K, Berry G, Kozicz T, Lam C, Morava E.   +15 more
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

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

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

Endocrine Implications of Congenital Disorders of Glycosylation [PDF]

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

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG. [PDF]

Hum Mutat
Pajusalu S, Vals MA, Serrano M, Witters P, Cechova A, Honzik T, Edmondson AC, Ficicioglu C, Barone R, De Lonlay P, Bérat CM, Vuillaumier-Barrot S, Lam C, Patterson MC, Janssen MCH, Martins E, Quelhas D, Sykut-Cegielska J, Mousa J, Urreizti R, McWilliams P, Vernhes F, Plotkin H, Morava E, Õunap K.   +24 more
europepmc   +1 more source