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For: Dimitrov B, Himmelreich N, Hipgrave Ederveen AL, Lüchtenborg C, Okun JG, Breuer M, Hutter AM, Carl M, Guglielmi L, Hellwig A, Thiemann KC, Jost M, Peters V, Staufner C, Hoffmann GF, Hackenberg A, Paramasivam N, Wiemann S, Eils R, Schlesner M, Strahl S, Brügger B, Wuhrer M, Christoph Korenke G, Thiel C. Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. Mol Genet Metab 2018;123:364-74. [PMID: 29396028 DOI: 10.1016/j.ymgme.2018.01.008] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 3.3] [Reference Citation Analysis]
Number Citing Articles
1 Fischer-zirnsak B, Koenig R, Alisch F, Güneş N, Hausser I, Saha N, Beck-woedl S, Haack TB, Thiel C, Kamrath C, Tüysüz B, Henning S, Mundlos S, Hoffmann K, Horn D, Kornak U. SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy. J Hum Genet 2019;64:609-16. [DOI: 10.1038/s10038-019-0602-8] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 4.0] [Reference Citation Analysis]
2 Pascoal C, Francisco R, Ferro T, Dos Reis Ferreira V, Jaeken J, Videira PA. CDG and immune response: From bedside to bench and back. J Inherit Metab Dis 2020;43:90-124. [PMID: 31095764 DOI: 10.1002/jimd.12126] [Cited by in Crossref: 17] [Cited by in F6Publishing: 15] [Article Influence: 8.5] [Reference Citation Analysis]
3 Jansen EJR, van Bakel NHM, Benedict B, Olde Loohuis NFM, Hafmans TGM, Chim SM, Xu J, Kolk SM, Martens GJM. Novel vertebrate- and brain-specific driver of neuronal outgrowth. Prog Neurobiol 2021;202:102069. [PMID: 33933532 DOI: 10.1016/j.pneurobio.2021.102069] [Reference Citation Analysis]
4 Görlacher M, Panagiotou E, Himmelreich N, Hüllen A, Beedgen L, Dimitrov B, Geiger V, Zielonka M, Peters V, Strahl S, Vázquez-Jiménez J, Kerst G, Thiel C. Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects. Mol Genet Metab Rep 2020;25:100673. [PMID: 33209585 DOI: 10.1016/j.ymgmr.2020.100673] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
5 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]
6 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]
7 Tvina A, Thomsen A, Palatnik A. Prenatal and postnatal phenotype of a pathologic variant in the ATP6AP1 gene. Eur J Med Genet 2020;63:103881. [PMID: 32058063 DOI: 10.1016/j.ejmg.2020.103881] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
8 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]
9 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]
10 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]