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Longer titles found: Congenital disorder of glycosylation type IIc (view)

searching for Congenital disorder of glycosylation 21 found (73 total)

alternate case: congenital disorder of glycosylation

ALG12 (617 words) [view diff] exact match in snippet view article find links to article

glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig) characterized by abnormal N-glycosylation

ALG3 (468 words) [view diff] exact match in snippet view article find links to article

Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation

ALG6 (904 words) [view diff] exact match in snippet view article find links to article

ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency". Human

ALG8 (640 words) [view diff] exact match in snippet view article find links to article

proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants

DPM1 (724 words) [view diff] exact match in snippet view article find links to article

"Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)". The Journal of Clinical Investigation. 105

PMM1 (793 words) [view diff] exact match in snippet view article find links to article

Klie F, Moller HU (2003). "Ophthalmic manifestations of congenital disorder of glycosylation type 1a". Ophthalmic Genet. 24 (2): 81–8. doi:10.1076/opge

Brachycephaly (1,403 words) [view diff] exact match in snippet view article find links to article

peripheral neuropathy ALDH18A1-related de Barsy syndrome ALG9 congenital disorder of glycosylation Alveolar capillary dysplasia with pulmonary venous misalignment

SLC35A1-CDG (1,432 words) [view diff] case mismatch in snippet view article find links to article

history (according to the OMIM page for the condition: #603585 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf; CDG2F) 2001: Willig et al. describes the first

Congenital muscular dystrophy (2,968 words) [view diff] case mismatch in snippet view article find links to article

612937 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io; CDG1O". www.omim.org. Retrieved 2016-04-26. "OMIM Entry - # 615042 - CONGENITAL DISORDER OF GLYCOSYLATION

ALG9 (746 words) [view diff] case mismatch in snippet view article find links to article

Analysis of a Defect in the Human ALG9 Gene: Definition of Congenital Disorder of Glycosylation Type IL". Am J Hum Genet. 75 (1): 146–50. doi:10.1086/422367

ALG2 (913 words) [view diff] exact match in snippet view article find links to article

diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). ALG2 has been shown to interact with ANXA7

Peters-plus syndrome (769 words) [view diff] exact match in snippet view article find links to article

Y. K.; Maki, Markku (2009). "Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that

Inverted nipple (1,017 words) [view diff] exact match in snippet view article find links to article

Genetic variant of nipple shape, such as: Weaver syndrome Congenital disorder of glycosylation type 1A and 1 L Kennerknecht-Sorgo-Oberhoffer syndrome Gynecomastia

CMP-sialic acid transporter (642 words) [view diff] exact match in snippet view article find links to article

(2005). "Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid

ChGn (415 words) [view diff] exact match in snippet view article find links to article

Force for Neonatal Genomics) (November 2019). "CSGALNACT1-congenital disorder of glycosylation: a mild skeletal dysplasia with advanced bone age". Human

CAD protein (1,156 words) [view diff] exact match in snippet view article find links to article

CAD is also regulated by mLST8, an mTORC1/2 component. Congenital disorder of glycosylation, Type Iz is a rare disease caused by mutations in the CAD

N-acetyllactosamine synthase (472 words) [view diff] exact match in snippet view article find links to article

beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId". The Journal of Clinical Investigation. 109 (6):

Fucokinase (420 words) [view diff] case mismatch in snippet view article find links to article

December 2018). "Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation". American Journal of Human Genetics. 103 (6): 1030–1037

Stt3a, catalytic subunit of the oligosaccharyltransferase complex (411 words) [view diff] case mismatch in snippet view article find links to article

Clayton-Smith J (May 2017). "Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A" (PDF). J. Child Neurol. 32

ALG6 (enzyme class) (388 words) [view diff] case mismatch in snippet view article

"Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic". Human Mutation. 22 (5): 420–1. doi:10.1002/humu.9195

Syndromic microphthalmia (538 words) [view diff] exact match in snippet view article find links to article

Waardenburg syndrome type 2 AR COMMAD syndrome SRD5A3 AR Congenital disorder of glycosylation type 1q (CDG1q) SMO unknown Curry–Jones syndrome (CJS) SALL4