Congenital Disorders of Glycosylation With Defective Fucosylation

Congenital Disorders of Glycosylation With Defective Fucosylation Publisher Pubmed

Hullen A¹ ; Falkenstein K¹ ; Weigel C² ; Huidekoper H³ ; Naumannbartsch N² ; Spenger J⁴ ; Feichtinger RG⁴ ; Schaefers J³ ; Frenz S⁵ ; Kotlarz D⁵ ; Momen T⁶ ; Khoshnevisan R^{7, 8} ; Riedhammer KM^{9, 10} ; Santer R¹¹ Show All Authors

Hullen A¹
Falkenstein K¹
Weigel C²
Huidekoper H³
Naumannbartsch N²
Spenger J⁴
Feichtinger RG⁴
Schaefers J³
Frenz S⁵
Kotlarz D⁵
Momen T⁶
Khoshnevisan R^{7, 8}
Riedhammer KM^{9, 10}
Santer R¹¹
Herget T¹²
Rennings A¹³
Lefeber DJ¹⁴
Mayr JA⁴
Thiel C¹
Wortmann SB^{4, 13}

Source: Journal of Inherited Metabolic Disease Published:2021

Abstract

Fucosylation is essential for intercellular and intracellular recognition, cell-cell interaction, fertilization, and inflammatory processes. Only five types of congenital disorders of glycosylation (CDG) related to an impaired fucosylation have been described to date: FUT8-CDG, FCSK-CDG, POFUT1-CDG SLC35C1-CDG, and the only recently described GFUS-CDG. This review summarizes the clinical findings of all hitherto known 25 patients affected with those defects with regard to their pathophysiology and genotype. In addition, we describe five new patients with novel variants in the SLC35C1 gene. Furthermore, we discuss the efficacy of fucose therapy approaches within the different defects. © 2021 SSIEM

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Style	Citing Format
MLA	Hullen A, et al.. "Congenital Disorders of Glycosylation With Defective Fucosylation." Journal of Inherited Metabolic Disease, vol. 44, no. 6, 2021, pp. 1441-1452.
APA	Hullen A, Falkenstein K, Weigel C, Huidekoper H, Naumannbartsch N, Spenger J, Feichtinger RG, Schaefers J, Frenz S, Kotlarz D, Momen T, Khoshnevisan R, Riedhammer KM, Santer R, Herget T, Rennings A, Lefeber DJ, Mayr JA, Thiel C, Wortmann SB (2021). Congenital Disorders of Glycosylation With Defective Fucosylation. Journal of Inherited Metabolic Disease, 44(6), 1441-1452.
Chicago	Hullen A, Falkenstein K, Weigel C, Huidekoper H, Naumannbartsch N, Spenger J, Feichtinger RG, et al.. "Congenital Disorders of Glycosylation With Defective Fucosylation." Journal of Inherited Metabolic Disease 44, no. 6 (2021): 1441-1452.
Harvard	Hullen A et al. (2021) 'Congenital Disorders of Glycosylation With Defective Fucosylation', Journal of Inherited Metabolic Disease, 44(6), pp. 1441-1452.
Vancouver	Hullen A, Falkenstein K, Weigel C, Huidekoper H, Naumannbartsch N, Spenger J, et al.. Congenital Disorders of Glycosylation With Defective Fucosylation. Journal of Inherited Metabolic Disease. 2021;44(6):1441-1452.
BibTex	@article{ author = {Hullen A and Falkenstein K and Weigel C and Huidekoper H and Naumannbartsch N and Spenger J and Feichtinger RG and Schaefers J and Frenz S and Kotlarz D and Momen T and Khoshnevisan R and Riedhammer KM and Santer R and Herget T and Rennings A and Lefeber DJ and Mayr JA and Thiel C and Wortmann SB}, title = {Congenital Disorders of Glycosylation With Defective Fucosylation}, journal = {Journal of Inherited Metabolic Disease}, volume = {44}, number = {6}, pages = {1441-1452}, year = {2021} }
RIS	TY - JOUR AU - Hullen A AU - Falkenstein K AU - Weigel C AU - Huidekoper H AU - Naumannbartsch N AU - Spenger J AU - Feichtinger RG AU - Schaefers J AU - Frenz S AU - Kotlarz D AU - Momen T AU - Khoshnevisan R AU - Riedhammer KM AU - Santer R AU - Herget T AU - Rennings A AU - Lefeber DJ AU - Mayr JA AU - Thiel C AU - Wortmann SB TI - Congenital Disorders of Glycosylation With Defective Fucosylation JO - Journal of Inherited Metabolic Disease VL - 44 IS - 6 SP - 1441 EP - 1452 PY - 2021 ER -

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