Results 131 to 140 of about 2,044 (163)

Congenital disorder of glycosylation (CDG) type Ie. A new patient

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: CDG Ie is caused by a deficiency of dolichol‐phosphate‐mannose synthase 1 (DPM1), an enzyme involved in N‐glycan assembly in the endoplasmic reticulum. Three proteins are known to be part of the synthase complex: DPM1, DPM2 and DPM3. Only mutations in DPM1, the catalytic subunit, have been described in three families.
García-Silva, M. T., Matthijs, G., Schollen, E., Cabrera, J. C., del Pozo, J. Sanchez, Herreros, M. Martí, Simón, R., Maties, M., Hernández, E. Martín, Hennet, T., Briones, P.   +10 more
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Molecular Diagnosis of Congenital Disorders of Glycosylation (CDG)

2013
Glycosylation is the addition of sugars (glycans) to proteins and lipids. Defective synthesis, assembly, or processing of glycans results in a group of disorders known as congenital disorders of glycosylation (CDG). Next-generation sequencing (NGS) technology is used in many molecular diagnostic laboratories and consists of comprehensive panels of ...
Melanie Jones, Madhuri Hegde
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Congenital disorders of glycosylation (CDG): Update and new developments

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: After a brief overview on CDG, this workshop concentrated on the experience with (mostly) known CDG in a European country (the Czech Republic) and on the Australasian experience, on recent developments regarding congenital muscular dystrophies due to O‐mannosylglycan assembly defects, and on new presentations of CDG.
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Congenital disorders of glycosylation (CDG): It's all in it!

Journal of Inherited Metabolic Disease, 2003
AbstractSummary: Congenital disorders of glycosylation (CDGs) are due to defects in the synthesis of the glycan moiety of glycoproteins or other glycoconjugates. This review is devoted mainly to the clinical aspects of protein glycosylation defects. There are two main types of protein glycosylation: N‐glycosylation and O‐glycosylation.
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Congenital Disorders of Glycosylation (CDG) of N-Glycoprotein

2020
Among the PTMs, the N-Glycosylation is the representative sugar–amino acid linkages of glycoproteins. Glycans attached to protein by a GlcNAcβ1-N-Asn linkage are called N-glycans. N-glycosylation has been named by the process of adding an N-glycan to a protein, where more than 50% of all proteins in humans have been suggested to be N-glycosylated.
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A New Subtype of a Congenital Disorder of Glycosylation (CDG) with Mild Clinical Manifestations

Neuropediatrics, 2002
A boy with an unspecific symptomatology consisting of mental retardation, strabismus, hypotonia and mild ataxia was diagnosed with a congenital disorder of glycosylation (CDG). Neither cerebellar atrophy nor dysmorphic features were present.
B, Assmann, R, Hackler, V, Peters, J R, Schaefer, T, Arndt, E, Mayatepek, J, Jaeken, G F, Hoffmann   +7 more
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Congenital disorder of glycosylation (CDG) Ig: Report on a patient and review of the literature

Journal of Inherited Metabolic Disease, 2005
SummaryWe report a new patient with CDG Ig and review the five other known patients. From the data on this small number of patients, it seems that the association of psychomotor retardation, male hypogenitalism and decreased serum IgG in a patient with a type 1 pattern of serum sialotransferrins might be a clue to the diagnosis of CDG Ig.
M, Di Rocco, T, Hennet, C E, Grubenmann, S, Pagliardini, A E M, Allegri, C G, Frank, M, Aebi, S, Vignola, J, Jaeken   +8 more
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Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature

Journal of Inherited Metabolic Disease, 2017
AbstractCongenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases caused by defects in glycosylation. Nearly 100 CDG types are known so far. Patients present a great phenotypic diversity ranging from poly‐ to mono‐organ/system involvement and from very mild to extremely severe presentation.
Marques-da-Silva, D, Dos Reis Ferreira, V, Monticelli, M, Janeiro, P, Videira, P A, Witters, P, Jaeken, J, Cassiman, D   +7 more
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Congenital Disorders of Glycosylation (CDG)

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 2008
P, de Lonlay, V, Valayannopoulos, T, Dupré, S, Vuillaumier-Barrot, N, Seta   +4 more
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Clinical and Biochemical Characterization of a Patient with Congenital Disorder of Glycosylation (CDG) IIx

The Journal of Pediatrics, 2005
We describe a case of congenital disorder of glycosylation with chronic diarrhea, progressive liver cirrhosis, and recurrent infections. Transferrin analysis showed only hyposialylation, but analysis of total serum N-glycans indicated loss of additional sugars, arguing that the latter generates a more informative picture to search for the primary ...
Yoshiaki, Miura, Stacey K H, Tay, Marion M, Aw, Erik A, Eklund, Hudson H, Freeze   +4 more
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