Results 111 to 120 of about 7,768 (132)

Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel PMM2 complex heterozygosis mutation. [PDF]

Mol Genet Metab Rep
Zhong D, Huang X, Feng T, Zeng J, Gu S, Ning F, Yang Y, Zhu J, Wang Y, Chen R, Ma G.   +10 more
europepmc   +1 more source

Drosophila models of phosphatidylinositol glycan biosynthesis class A congenital disorder of glycosylation (PIGA-CDG) mirror patient phenotypes. [PDF]

G3 (Bethesda)
Thorpe HJ, Owings KG, Aziz MC, Haller M, Coelho E, Chow CY.   +5 more
europepmc   +1 more source

Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition. [PDF]

Mol Genet Metab Rep
Ezell KM, Furuta Y, Oglesbee D, Pivnick EK, Rinker D, Sheehan JH, Tinker RJ, Hamid R, Cogan JD, Rives L, Neumann S, Corner B, Koziura M, Phillips JA, Undiagnosed Diseases Network.   +14 more
europepmc   +1 more source

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TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability

Genetics in Medicine, 2022
Filippo Vairo, Eva Morava, Silvia Radenkovic   +2 more
exaly  

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

Brain, 2020
Emanuele Agolini, Viola Alesi, Maha Zaki
exaly  

Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies

Journal of Thrombosis and Haemostasis, 2019
Dominique Lasne, María Eugenia de la Morena Barrio, Arnaud Bruneel   +2 more
exaly  

RECURRENT THROMBO-EMBOLISM IN A CHILD WITH A CONGENITAL DISORDER OF GLYCOSYLATION (CDG) TYPE IB AND TREATMENT WITH MANNOSE

Pediatric Hematology and Oncology, 2008
W A Kamps
exaly  

Analysis of Multiple Mutations in the h Gene in a Patient with Congenital Disorder of Glycosylation Ic

Molecular Genetics and Metabolism, 2000
Hudson H. Freeze, Thorsten Marquardt, Vibeke Westphal   +2 more
exaly  

Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG)

Ophthalmic Genetics, 2018
Arif Khan
exaly