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Author/Creator Rymen, Daisy

1. ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Issue 7 (21st March 2016)

Authors:
Ng, Bobby G.; Shiryaev, Sergey A.; Rymen, Daisy; Eklund, Erik A.; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E.; Alehan, Fusun; Midro, Alina T.; Bamshad, Michael J.; Barone, Rita; Berry, Gerard T.; Brumbaugh, Jane E.; Buckingham, Kati J.; Clarkson, Katie; Cole, F. Sessions; O'Connor, Shawn; ...
Journal:
Human mutation
Issue:
Volume 37:Issue 7(2016)
Page Start:
653
Record Type:
Journal Article
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2. CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking. Issue 15 (9th March 2022)

Authors:
Wilson, Matthew P; Durin, Zoé; Unal, Özlem; Ng, Bobby G; Marrecau, Thomas; Keldermans, Liesbeth; Souche, Erika; Rymen, Daisy; Gündüz, Mehmet; Köse, Gülşen; Sturiale, Luisa; Garozzo, Domenico; Freeze, Hudson H; Jaeken, Jaak; Foulquier, François; Matthijs, Gert
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 15(2022)
Page Start:
2571
Record Type:
Journal Article
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3. Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy. Issue 4 (14th July 2021)

Authors:
Rapp, Christina K.; Van Dijck, Ine; Laugwitz, Lucia; Boon, Mieke; Briassoulis, George; Ilia, Stavroula; Kammer, Birgit; Reu, Simone; Hornung, Stefanie; Buchert, Rebecca; Sofan, Linda; Froukh, Tawfiq; Witters, Peter; Rymen, Daisy; Haack, Tobias B.; Proesmans, Marijke; Griese, Matthias
Journal:
Clinical genetics
Issue:
Volume 100:Issue 4(2021)
Page Start:
453
Record Type:
Journal Article
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4. International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management. Issue 1 (15th September 2020)

Authors:
Altassan, Ruqaiah; Radenkovic, Silvia; Edmondson, Andrew C.; Barone, Rita; Brasil, Sandra; Cechova, Anna; Coman, David; Donoghue, Sarah; Falkenstein, Kristina; Ferreira, Vanessa; Ferreira, Carlos; Fiumara, Agata; Francisco, Rita; Freeze, Hudson; Grunewald, Stephanie; Honzik, Tomas; Jaeken, Jaak; ...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 1(2021)
Page Start:
148
Record Type:
Journal Article
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5. SLC37A4‐CDG: Second patient. Issue 1 (6th January 2021)

Authors:
Wilson, Matthew P.; Quelhas, Dulce; Leão‐Teles, Elisa; Sturiale, Luisa; Rymen, Daisy; Keldermans, Liesbeth; Race, Valérie; Souche, Erika; Rodrigues, Esmeralda; Campos, Teresa; Van Schaftingen, Emile; Foulquier, François; Garozzo, Domenico; Matthijs, Gert; Jaeken, Jaak
Journal:
JIMD reports
Issue:
Volume 58:Issue 1(2021)
Page Start:
122
Record Type:
Journal Article
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6. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study. Issue 10326 (19th February 2022)

Authors:
Tromp, Tycho R; Hartgers, Merel L; Hovingh, G Kees; Vallejo-Vaz, Antonio J; Ray, Kausik K; Soran, Handrean; Freiberger, Tomas; Bertolini, Stefano; Harada-Shiba, Mariko; Blom, Dirk J; Raal, Frederick J; Cuchel, Marina; Tromp, Tycho R.; Hartgers, Merel L.; Hovingh, G. Kees; Vallejo-Vaz, Antonio J.;...
Journal:
Lancet
Issue:
Volume 399:Issue 10326(2022)
Page Start:
719
Record Type:
Journal Article
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