Results 141 to 150 of about 3,636 (221)

Abnormal glycosylation in Joubert syndrome type 10 [PDF]

, 2017

core   +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

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

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

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

Study of hemostasis and endothelium in congenital disorder of glycosylation (CDG)

, 2019
The aim of this study was to evaluate the role of N-glycosylations on hemostasis, both on coagulation proteins and on the endothelium. In order to study the role of glycan chains on hemostasis in a global system, we were interested in congenital disorder of glycosylation (CDG).
openaire   +1 more source

COG5-CDG: expanding the clinical spectrum [PDF]

core   +1 more source

Glycoproteomics: New Technology Developments and Applications Provide Renewed Interest in Glycoproteins [PDF]

, 2008

core   +1 more source

Unilateral Multicystic Dysplastic Kidney in a Fetus Associated With Parental Genetic and Environmental Risk Factors: A Case Report. [PDF]

Cureus
Khan Z, Jafri M, Lambroussis CG.
europepmc   +1 more source

<i>In vitro</i> cell model to dilucidate the underlying molecular mechanism associated with ophthalmic manifestation of congenital disorders of glycosylation: studying an ALG2-CDG patient. [PDF]

Front Genet
Cubilla MA, Sclausero AC, Bisbal M, Asteggiano CG.   +3 more
europepmc   +1 more source