Results 101 to 110 of about 2,044 (163)

Multi-Omics Characterization of a Novel <i>SSR4</i> Variant in Congenital Disorders of Glycosylation. [PDF]

Metabolites
Abu Bakar N, Hamzan NI, Majawit EM, Ahmad Ridzuan SN, Hassan NH, Habib A, Ngu LH.   +6 more
europepmc   +1 more source

Identification of Compound Heterozygous <i>DPM1</i> Variants in a Pediatric Patient With Congenital Disorder of Glycosylation Type Ie. [PDF]

Case Rep Pediatr
Song W, Zhou W, Yang L, Tang L.
europepmc   +1 more source

Network Hypoactivity in ALG13-CDG: Disrupted Developmental Pathways and E/I Imbalance as Early Drivers of Neurological Features in CDG. [PDF]

Cells
Shah R, Budhraja R, Radenkovic S, Preston G, King AT, Sabry S, Bleukx C, Shammas I, Young L, Chandran J, Byeon SK, Hrstka R, Smith DY, Staff NP, Drake R, Sloan SA, Pandey A, Morava E, Kozicz T.   +18 more
europepmc   +1 more source

Protein losing enteropathy due to congenital disorder of glycosylation: A case report. [PDF]

SAGE Open Med Case Rep
Odenthal J, Lin HC, Trieschmann K.
europepmc   +1 more source

The TRAP complex (SSR1-SSR4): mechanistic roles and therapeutic opportunities. [PDF]

Ann Med
Zhang J, Wan X, Gong A.
europepmc   +1 more source

Novel PGM1 Mutation in Congenital Disorder of Glycosylation Type 1T: A Case Report of Liver Failure and Myopathy. [PDF]

Am J Case Rep
Al-Ahmari AA.
europepmc   +1 more source

The revised three-step detour pathway in dolichol biosynthesis is evolutionarily conserved in budding yeast. [PDF]

Proc Natl Acad Sci U S A
Hanaoka K, Matsunaga K, Shimizu S, Sakai S, Pichler H, Funato K.   +5 more
europepmc   +1 more source

Congenital disorder of glycosylation type IIb in an infant with developmental and epileptic encephalopathy. [PDF]

BMJ Case Rep
Shwetabh RK, Singh A, Mandal K, Naranje K, Verma A.   +4 more
europepmc   +1 more source

The Role of Pyridoxine Treatment for Seizures in Patients with PGAP3-Congenital Disorders of Glycosylation. [PDF]

Ann Indian Acad Neurol
Beşen Ş, Özkale Y, Sangün Ö, Erol İ.   +3 more
europepmc   +1 more source

Immunological Manifestations in GALE Deficiency: Extending the Spectrum Beyond Thrombocytopenia and Galactosemia. [PDF]

J Clin Immunol
Kristal E, Khalaila A, Asleh M, Quider AA, Eshel YD, Mahdi NE, Hadad N, Almashanu S, Miskin H, Staretz-Chacham O, Ben-Harosh M.   +10 more
europepmc   +1 more source