Concepedia

Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation

Roni Zemet, Roni Zemet, Kyle D. Hope, Andrew C. Edmondson, Rameen Shah, Maria Patino, Abigail Yesso, Justin H. Berger, Kyriakie Sarafoglou, Austin Larson,

Molecular Genetics and Metabolism · 2024 · 11 citations · 24 references

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24

Essentials of Glycobiology

IM van Die · Pure Amsterdam UMC · 2017 · 1.1K citations

Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90

J. Jaeken, M Vanderschueren‐Lodeweyckx, L Snoeck et al. · Pediatric Research · 1980 · 289 citations

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Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects

Sevjidmaa Baasanjav, Lihadh Al‐Gazali, Taishi Hashiguchi et al. · The American Journal of Human Genetics · 2011 · 121 citations · Full text

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Regulated and aberrant glycosylation modulate cardiac electrical signaling

Marty L. Montpetit, Patrick J. Stocker, Tara A. Schwetz et al. · Proceedings of the National Academy of Sciences · 2009 · 111 citations · Full text

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Post-translational modifications enhance NT-proBNP and BNP production in acute decompensated heart failure

Nicolas Vodovar, Marie‐France Seronde, Sai͏̈d Laribi et al. · European Heart Journal · 2014 · 109 citations

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