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Cited by in F6Publishing
For: Witters P, Breckpot J, Foulquier F, Preston G, Jaeken J, Morava E. Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation. Eur J Hum Genet 2018;26:618-21. [PMID: 29192153 DOI: 10.1038/s41431-017-0044-8] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 1.8] [Reference Citation Analysis]
Number Citing Articles
1 Ondruskova N, Honzik T, Vondrackova A, Stranecky V, Tesarova M, Zeman J, Hansikova H. Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation. J Inherit Metab Dis 2020;43:694-700. [PMID: 32216104 DOI: 10.1002/jimd.12237] [Cited by in Crossref: 3] [Cited by in F6Publishing: 5] [Article Influence: 3.0] [Reference Citation Analysis]
2 Lipiński P, Rokicki D, Bogdańska A, Lesiak J, Lefeber DJ, Tylki-Szymańska A. ATP6AP1-CDG: Follow-up and female phenotype. JIMD Rep 2020;53:80-2. [PMID: 32395412 DOI: 10.1002/jmd2.12104] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
3 Gumm AJ, Basel DG, Thakrar P, Suchi M, Telega G. Liver failure and x-linked immunodeficiency type 47. Pediatr Transplant 2020;24:e13808. [PMID: 32790950 DOI: 10.1111/petr.13808] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
4 Kosinski P, Greczan M, Jezela-Stanek A. Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome - Literature Review. Front Genet 2021;12:674722. [PMID: 34163527 DOI: 10.3389/fgene.2021.674722] [Reference Citation Analysis]
5 Bogdańska A, Lipiński P, Szymańska-Rożek P, Jezela-Stanek A, Rokicki D, Socha P, Tylki-Szymańska A. Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up. Orphanet J Rare Dis 2021;16:17. [PMID: 33407696 DOI: 10.1186/s13023-020-01657-5] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 4.0] [Reference Citation Analysis]
6 Yang X, Lv Z, Tang Q, Chen X, Huang L, Yang M, Lan L, Shan Q. Congenital disorder of glycosylation caused by mutation of ATP6AP1 gene (c.1036G>A) in a Chinese infant: A case report. WJCC 2021;9:7876-85. [DOI: 10.12998/wjcc.v9.i26.7876] [Reference Citation Analysis]
7 Vogt G, El Choubassi N, Herczegfalvi Á, Kölbel H, Lekaj A, Schara U, Holtgrewe M, Krause S, Horvath R, Schuelke M, Hübner C, Mundlos S, Roos A, Lochmüller H, Karcagi V, Kornak U, Fischer-Zirnsak B. Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. J Inherit Metab Dis 2021;44:972-86. [PMID: 33320377 DOI: 10.1002/jimd.12341] [Cited by in F6Publishing: 1] [Reference Citation Analysis]