Results 151 to 160 of about 6,916 (192)

Evolutionary Diffusion Framework Empowering High-Performance Freeform Terahertz Metasurface Sensing. [PDF]

Sensors (Basel)
Zhang C, Pan M, Hong Q, Shen S, Guo C, Shi Y, Zhang Y.   +6 more
europepmc   +1 more source

Insights Into the Pathological Glycosylation Associated With COG6-CDG. [PDF]

Hum Mutat
Pakanová Z, Krchňák M, Nemčovič M, Kodríková R, Ondrušková N, Štufková H, Giertlová M, Okáľová K, Stretavská P, Martineková S, Mezenská RZ, Urminská M, Škopková M, Andrésová A, Lysinová M, Belujská L, Šalingová A, Beke G, Račková L, Honzík T, Hansíková H, Baráth P.   +21 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

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

Diagnostic challenges and mimicking disorders of Wilson's Disease: A comprehensive review. [PDF]

Caspian J Intern Med
Hashemi SS, Gholoobi A, Naghipoor K, Hamzehloei T.   +3 more
europepmc   +1 more source

Serum Cytokine Profiles Associated with Inflammation and Tumor Progression in Crohn's Disease and Colorectal Cancer. [PDF]

Int J Mol Sci
Święch M, Lorenc-Góra J, Muc-Wierzgoń M, Świętochowska E, Kowalczyk P, Czuba ZP, Waniczek D.   +6 more
europepmc   +1 more source

COG Complex in Golgi Trafficking and Glycosylation. [PDF]

Subcell Biochem
Sumya FT, Lupashin VV.
europepmc   +1 more source

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Solutions of CDG Equation and Modified CDG Equation

Communications in Theoretical Physics, 1998
This article puts forward a new way to find solutions of CDG equation. The main results are:(i) According to the Lax pair of CDG equation, we introduce the modified CDG equation. (ii) An invariance depending on two parameters of M-CDG equation is found. (iii) Some solutions for CDG equation are obtained by using the invariance.
Tian Yongbo, Cheng Yi
openaire   +1 more source

Skin manifestations in CDG

Journal of Inherited Metabolic Disease, 2014
AbstractThe group of congenital disorders of glycosylation (CDG) has expanded tremendously since its first description in 1980, with around 70 distinct disorders described to date. A great phenotypic variability exists, ranging from multisystem disease to single organ involvement.
D, Rymen, J, Jaeken
openaire   +2 more sources

The challenge of CDG diagnosis

Molecular Genetics and Metabolism, 2019
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases that currently includes some 130 different types. CDG diagnosis is a challenge, not only because of this large number but also because of the huge clinical heterogeneity even within a number of CDG.
R, Francisco, D, Marques-da-Silva, S, Brasil, C, Pascoal, V, Dos Reis Ferreira, E, Morava, J, Jaeken   +6 more
openaire   +2 more sources