{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T16:49:47Z","timestamp":1761324587211,"version":"3.38.0"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2024,6,27]],"date-time":"2024-06-27T00:00:00Z","timestamp":1719446400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,6,27]],"date-time":"2024-06-27T00:00:00Z","timestamp":1719446400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2025,3]]},"DOI":"10.1038\/s41431-024-01657-0","type":"journal-article","created":{"date-parts":[[2024,6,27]],"date-time":"2024-06-27T13:02:31Z","timestamp":1719493351000},"page":"263-265","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["GLA insufficiency should not be called Fabry disease"],"prefix":"10.1038","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6102-1513","authenticated-orcid":false,"given":"Gunnar","family":"Houge","sequence":"first","affiliation":[]},{"given":"Mirjam","family":"Langeveld","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5016-1967","authenticated-orcid":false,"given":"Joao-Paulo","family":"Oliveira","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2024,6,27]]},"reference":[{"key":"1657_CR1","doi-asserted-by":"crossref","unstructured":"Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, et al. A genome-wide mutational constraint map quantified from variation in 76,156 human genomes. Nature. 2024;625:92\u2013100.","DOI":"10.1038\/s41586-023-06045-0"},{"key":"1657_CR2","doi-asserted-by":"publisher","first-page":"107700","DOI":"10.1016\/j.ymgme.2023.107700","volume":"140","author":"C Riillo","year":"2023","unstructured":"Riillo C, Bonapace G, Moricca MT, Sestito S, Salatino A, Concolino D. c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: possible relevance in the pathogenesis of late-onset forms of Fabry disease. Mol Genet Metab. 2023;140:107700.","journal-title":"Mol Genet Metab"},{"key":"1657_CR3","doi-asserted-by":"publisher","first-page":"1272","DOI":"10.2215\/CJN.0000000000000239","volume":"18","author":"SJ van der Veen","year":"2023","unstructured":"van der Veen SJ, Sayed ME, Hollak CEM, Brands MM, Snelder CKS, Boekholdt SM, et al. Early risk stratification for natural disease course in Fabry patients using plasma globotriaosylsphingosine levels. Clin J Am Soc Nephrol. 2023;18:1272\u201382.","journal-title":"Clin J Am Soc Nephrol"},{"key":"1657_CR4","doi-asserted-by":"publisher","first-page":"206","DOI":"10.1002\/ajmg.c.31998","volume":"190","author":"S Viall","year":"2022","unstructured":"Viall S, Dennis A, Yang A. Newborn screening for Fabry disease in oregon: approaching the iceberg of A143T and variants of uncertain significance. Am J Med Genet C Semin Med Genet. 2022;190:206\u201314.","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"1657_CR5","doi-asserted-by":"publisher","first-page":"1111","DOI":"10.1038\/ejhg.2011.87","volume":"19","author":"G Houge","year":"2011","unstructured":"Houge G, Tondel C, Kaarboe O, Hirth A, Bostad L, Svarstad E. Fabry or not Fabry-a question of ascertainment. Eur J Hum Genet. 2011;19:1111.","journal-title":"Eur J Hum Genet"},{"key":"1657_CR6","doi-asserted-by":"crossref","unstructured":"Elsaid HOA, Tjeldnes H, Rivedal M, Serre C, Eikrem O, Svarstad E, et al. Gene expression analysis in gla-Mutant Zebrafish Reveals enhanced Ca(2+) signaling similar to Fabry disease. Int J Mol Sci. 2022;24:358.","DOI":"10.3390\/ijms24010358"},{"key":"1657_CR7","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1136\/bjophthalmol-2014-306433","volume":"100","author":"L van der Tol","year":"2016","unstructured":"van der Tol L, Sminia ML, Hollak CE, Biegstraaten M. Cornea verticillata supports a diagnosis of Fabry disease in non-classical phenotypes: results from the Dutch cohort and a systematic review. Br J Ophthalmol. 2016;100:3\u20138.","journal-title":"Br J Ophthalmol"},{"key":"1657_CR8","doi-asserted-by":"publisher","first-page":"35","DOI":"10.2147\/TACG.S146022","volume":"12","author":"JP Oliveira","year":"2019","unstructured":"Oliveira JP, Ferreira S. Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype- phenotype correlations. Appl Clin Genet. 2019;12:35\u201350.","journal-title":"Appl Clin Genet"},{"key":"1657_CR9","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1136\/heartjnl-2019-315933","volume":"106","author":"K Valtola","year":"2020","unstructured":"Valtola K, Nino-Quintero J, Hedman M, Lottonen-Raikaslehto L, Laitinen T, Maria M, et al. Cardiomyopathy associated with the Ala143Thr variant of the alpha-galactosidase A gene. Heart. 2020;106:609\u201315.","journal-title":"Heart"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01657-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01657-0","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01657-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,10]],"date-time":"2025-03-10T14:02:23Z","timestamp":1741615343000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01657-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,27]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["1657"],"URL":"https:\/\/doi.org\/10.1038\/s41431-024-01657-0","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"type":"print","value":"1018-4813"},{"type":"electronic","value":"1476-5438"}],"subject":[],"published":{"date-parts":[[2024,6,27]]},"assertion":[{"value":"6 December 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 April 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 June 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 June 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"GH have received travel and meeting support from Shire\/Takeda and Genzyme\/Sanofi. ML is involved in a premarketing studies concerning Fabry disease with Genzyme\/Sanofi, Protalix\/Chiesi and Idorsia. Financial arrangements were made through AMC Research BV. No fees, travel support or grants were obtained from pharmaceutical Industry. JPO is a long-time member of the European Advisory Board of the Fabry Registry, sponsored by Genzyme\/Sanofi, and have received consulting honoraria from Amicus, Chiesi, Sanofi and Takeda, and speaker fees from Sanofi and Takeda. He has also received travel and accommodation support from Amicus, Genzyme\/Sanofi and Shire\/Takeda, and research funding from Genzyme\/Sanofi.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Ethical approval was not obtained since identification of individuals in the two tables is impossible, including the drawing\u00a0of pedigrees. The data in the two tables are of anonymous nature and cannot be traced back to individuals or families. For the most detailed data (Table ), consent was obtained, for the less detailed data (Table ), consent was not required under the local regulatory system. Both variants presented (Arg112His in Table  and Met42Leu in Table ) are quite common in gnomAD version 4.1 (with 22 and 5 entries, respectively).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}