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Quoted phrase not found in phrase index: "ALG8 congenital disorder of glycosylation"
Page 1
ALG8-CDG: novel patients and review of the literature.
Höck M, Wegleiter K, Ralser E, Kiechl-Kohlendorfer U, Scholl-Bürgi S, Fauth C, Steichen E, Pichler K, Lefeber DJ, Matthjis G, Keldermans L, Maurer K, Zschocke J, Karall D. Höck M, et al. Orphanet J Rare Dis. 2015 Jun 12;10:73. doi: 10.1186/s13023-015-0289-7. Orphanet J Rare Dis. 2015. PMID: 26066342 Free PMC article. Review.
BACKGROUND: Since 1980, about 100 types of congenital disorders of glycosylation (CDG) have been reported representing an expanding group of inherited disorders. ...The prognosis is generally poor. Thus, a timely and correct diagnosis is …
BACKGROUND: Since 1980, about 100 types of congenital disorders of glycosylation (CDG) have been reported repres …
Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review.
Makhamreh MM, Cottingham N, Ferreira CR, Berger S, Al-Kouatly HB. Makhamreh MM, et al. J Inherit Metab Dis. 2020 Mar;43(2):223-233. doi: 10.1002/jimd.12162. Epub 2019 Nov 8. J Inherit Metab Dis. 2020. PMID: 31420886
Numerous etiologies may lead to nonimmune hydrops fetalis (NIHF) including congenital disorders of glycosylation (CDG). Recognition of CDG in NIHF is challenging. ...SYNOPSIS: Poor prognosis in fetuses and infants with nonimmune hydrops fetalis …
Numerous etiologies may lead to nonimmune hydrops fetalis (NIHF) including congenital disorders of glycosylation …
A new case of ALG8 deficiency (CDG Ih).
Vesela K, Honzik T, Hansikova H, Haeuptle MA, Semberova J, Stranak Z, Hennet T, Zeman J. Vesela K, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1. doi: 10.1007/s10545-009-1203-z. Epub 2009 Aug 18. J Inherit Metab Dis. 2009. PMID: 19688606 Free article. Review.
Congenital disorders of glycosylation (CDG) represent an expanding group of inherited diseases. ...CONCLUSION: The prognosis of patients with ALG8 deficiency is unfavourable. The majority of affected children have early onset of the disea …
Congenital disorders of glycosylation (CDG) represent an expanding group of inherited diseases. ...CONCLUSION: T …
Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.
Kouwenberg D, Gardeitchik T, Mohamed M, Lefeber DJ, Morava E. Kouwenberg D, et al. Pediatr Dermatol. 2014 Jan-Feb;31(1):e1-5. doi: 10.1111/pde.12233. Pediatr Dermatol. 2014. PMID: 24555185 Review.
Glycosylation is the posttranslational coupling of sugar chains to proteins or lipids. ...Mutations in the glycosylation pathway lead to a phenotypically heterogeneous group of metabolic disorders, the congenital disorders of glycosyla …
Glycosylation is the posttranslational coupling of sugar chains to proteins or lipids. ...Mutations in the glycosylation pathw …
Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient.
Vuillaumier-Barrot S, Schiff M, Mattioli F, Schaefer E, Dupont A, Dancourt J, Dupré T, Couvineau A, de Baulny HO, de Lonlay P, Seta N, Moore S, Chantret I. Vuillaumier-Barrot S, et al. Pediatr Res. 2019 Feb;85(3):384-389. doi: 10.1038/s41390-018-0231-5. Epub 2018 Nov 12. Pediatr Res. 2019. PMID: 30420707
BACKGROUND: Congenital disorders of glycosylation (CDG) includes ALG8 deficiency, a protein N-glycosylation defect with a broad clinical spectrum. ...We now described a novel ALG8 transcript variant in this patient and the 3D model …
BACKGROUND: Congenital disorders of glycosylation (CDG) includes ALG8 deficiency, a protein N-glycosyl …
Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.
Bastaki F, Bizzari S, Hamici S, Nair P, Mohamed M, Saif F, Malik EM, Al-Ali MT, Hamzeh AR. Bastaki F, et al. Ann Hum Genet. 2018 Jan;82(1):35-47. doi: 10.1111/ahg.12220. Epub 2017 Sep 21. Ann Hum Genet. 2018. PMID: 28940310
Congenital disorders of glycosylation (CDG) represent an expanding group of conditions that result from defects in protein and lipid glycosylation. ...Ten Arab CDG patients from Latifa Hospital in Dubai, United Arab Emirates, were assessed using …
Congenital disorders of glycosylation (CDG) represent an expanding group of conditions that result from defects …
Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes.
Sorte H, Mørkrid L, Rødningen O, Kulseth MA, Stray-Pedersen A, Matthijs G, Race V, Houge G, Fiskerstrand T, Bjurulf B, Lyle R, Prescott T. Sorte H, et al. Eur J Med Genet. 2012 Mar;55(3):196-202. doi: 10.1016/j.ejmg.2012.01.003. Epub 2012 Jan 16. Eur J Med Genet. 2012. PMID: 22306853
Posttranslationally glycosylated proteins are important in many biological processes in humans and Congenital disorders of glycosylation (CDGs) are associated with a broad range of phenotypes. ...To our knowledge, the current report describes the ninth …
Posttranslationally glycosylated proteins are important in many biological processes in humans and Congenital disorders of …
A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation.
Chantret I, Dancourt J, Dupré T, Delenda C, Bucher S, Vuillaumier-Barrot S, Ogier de Baulny H, Peletan C, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE. Chantret I, et al. J Biol Chem. 2003 Mar 14;278(11):9962-71. doi: 10.1074/jbc.M211950200. Epub 2002 Dec 11. J Biol Chem. 2003. PMID: 12480927 Free article.
The underlying causes of type I congenital disorders of glycosylation (CDG I) have been shown to be mutations in genes encoding proteins involved in the biosynthesis of the dolichyl-linked oligosaccharide (Glc(3)Man(9)GlcNAc(2)-PP-dolichyl) that is req …
The underlying causes of type I congenital disorders of glycosylation (CDG I) have been shown to be mutations in …