Results 41 to 50 of about 756 (108)

Tofacitinib Improves Motor Symptoms in Parkinsonism Associated with a Heterozygous NGLY1 Variant and Autoimmune Disease. [PDF]

Eur J Case Rep Intern Med
Reina-Llompart N, Serrano-López S, Torres-Iglesias G, Álvarez-Troncoso J.   +3 more
europepmc   +1 more source

Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.

Molecular Genetics and Metabolism, 2018
P. Hall, Christina Lam, J. Alexander, G. Asif, G. Berry, C. Ferreira, H. Freeze, W. Gahl, K. Nickander, J. D. Sharer, Caroline M. Watson, L. Wolfe, K. Raymond   +12 more
semanticscholar   +1 more source

Dynamic glycosylation remodeling in neurological disorders. [PDF]

Front Mol Neurosci
Xing D, Gong Y, Xia W, Tu H, Yuan L, Yin Y, Wang K.   +6 more
europepmc   +1 more source

Expanding carrier screening: beyond the genes, to include underrepresented ancestries. [PDF]

NPJ Genom Med
Bylstra Y, Jian PC, Lin S, Goh J, Choi C, Teo JX, Lim S, Hodgson J, Menezes M, Weng R, Amor DJ, Lim WK, Jamuar SS.   +12 more
europepmc   +1 more source

Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature. [PDF]

Mol Genet Metab Rep
De Preter A, Rochtus A, Witters P, Rymen D.   +3 more
europepmc   +1 more source

Neurogenetic Disorders with Hearing Loss: Mechanisms, Classifications, and Emerging Insights. [PDF]

Curr Neurol Neurosci Rep
Owrang D, Vona B.
europepmc   +1 more source

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

Putative role of TMEM165 in congenital cardiomyopathies. [PDF]

Front Mol Neurosci
Gonçalves PP.
europepmc   +1 more source

An Assay System for Plate-based Detection of Endogenous Peptide:N-glycanase/NGLY1 Activity Using A Fluorescence-based Probe. [PDF]

Bio Protoc
Hirayama H, Suzuki T.
europepmc   +1 more source

MAN2A2-related glycosylation defects in autism and cognitive delay. [PDF]

Sci Rep
Treccarichi S, Vinci M, Cirnigliaro L, Messina A, Palmigiano A, Pettinato F, Musumeci A, Chiavetta V, Saccone S, Sturiale L, Calì F, Barone R.   +11 more
europepmc   +1 more source