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Page 1
Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia.
Mulder JWCM, Tromp TR, Al-Khnifsawi M, Blom DJ, Chlebus K, Cuchel M, D'Erasmo L, Gallo A, Hovingh GK, Kim NT, Long J, Raal FJ, Schonck WAM, Soran H, Truong TH, Boersma E, Roeters van Lennep JE; Homozygous Familial Hypercholesterolemia International Clinical Collaborators. Mulder JWCM, et al. JAMA Cardiol. 2024 Apr 1;9(4):313-322. doi: 10.1001/jamacardio.2023.5597. JAMA Cardiol. 2024. PMID: 38353972
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.
Holubova V, Barone R, Grunewald S, Tesařová M, Hansíková H, Augustínová J, Sykut-Cegielska J, De Nictolis F, Diaz-Moreno U, Elangovan R, Epifani F, Gasperini S, Jansen M, Lefeber D, Maksym-Gasiorek D, Diego M, Ounap K, Pettinato F, Põder H, Rymen D, Vals MA, Serrano M, Witters P, Honzík T. Holubova V, et al. Among authors: witters p. J Inherit Metab Dis. 2024 Dec 5. doi: 10.1002/jimd.12826. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 39633515
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT; and the MetabERN Subnetwork for Lysosomal Disorders. Parenti G, et al. Orphanet J Rare Dis. 2024 Nov 1;19(1):408. doi: 10.1186/s13023-024-03373-w. Orphanet J Rare Dis. 2024. PMID: 39482698 Free PMC article. Review.
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
Lam C, Scaglia F, Berry GT, Larson A, Sarafoglou K, Andersson HC, Sklirou E, Tan QKG, Starosta RT, Sadek M, Wolfe L, Horikoshi S, Ali M, Barone R, Campbell T, Chang IJ, Coles K, Cook E, Eklund EA, Engelhardt NM, Freeman M, Friedman J, Fu DYT, Botzo G, Rawls B, Hernandez C, Johnsen C, Keller K, Kramer S, Kuschel B, Leshinski A, Martinez-Duncker I, Mazza GL, Mercimek-Andrews S, Miller BS, Muthusamy K, Neira J, Patterson MC, Pogorelc N, Powers LN, Ramey E, Reinhart M, Squire A, Thies J, Vockley J, Vreugdenhil H, Witters P, Youbi M, Zeighami A, Zemet R, Edmondson AC, Morava E. Lam C, et al. Among authors: witters p. Mol Genet Metab. 2024 Aug;142(4):108509. doi: 10.1016/j.ymgme.2024.108509. Epub 2024 Jun 6. Mol Genet Metab. 2024. PMID: 38959600
Single-cell RNA sequencing of cystic fibrosis liver disease explants reveals endothelial complement activation.
Declercq M, Treps L, Geldhof V, Conchinha NV, de Rooij LPMH, Subramanian A, Feyeux M, Cotinat M, Boeckx B, Vinckier S, Dupont L, Vermeulen F, Boon M, Proesmans M, Libbrecht L, Pirenne J, Monbaliu D, Jochmans I, Dewerchin M, Eelen G, Roskams T, Verleden S, Lambrechts D, Carmeliet P, Witters P. Declercq M, et al. Among authors: witters p. Liver Int. 2024 Sep;44(9):2382-2395. doi: 10.1111/liv.15963. Epub 2024 Jun 7. Liver Int. 2024. PMID: 38847551
Glycosphingolipids in congenital disorders of glycosylation (CDG).
Jáñez Pedrayes A, Rymen D, Ghesquière B, Witters P. Jáñez Pedrayes A, et al. Among authors: witters p. Mol Genet Metab. 2024 May;142(1):108434. doi: 10.1016/j.ymgme.2024.108434. Epub 2024 Mar 5. Mol Genet Metab. 2024. PMID: 38489976 Review.
Pseudohyperglycemia due to glucometer interference in galactosemia.
Decru B, Blanckaert H, Naulaers G, Vanhole C, Rymen D, Witters P, Van Wambeke I, Gillard P, Vermeersch P. Decru B, et al. Among authors: witters p. Clin Chem Lab Med. 2023 Nov 30;62(5):e107-e109. doi: 10.1515/cclm-2023-1304. Print 2024 Apr 25. Clin Chem Lab Med. 2023. PMID: 38019925 No abstract available.
91 results