{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T10:35:56Z","timestamp":1778841356888,"version":"3.51.4"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,4,9]],"date-time":"2020-04-09T00:00:00Z","timestamp":1586390400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In 2016, 11 male patients were reported with immunodeficiency and hepatic, gastric and (in some) neurological disease due to X\u2010linked ATP6AP1 deficiency (ATP6AP1\u2010CDG). In 2018, three other patients were reported with additional features: connective tissue abnormalities, sensorineural hearing loss, hyperopia, glomerular and tubular dysfunction, exocrine pancreatic insufficiency and altered amino acid and lipid metabolism. We here present a follow\u2010up of three reported siblings showing progression of deafness to total hearing loss, progressive loss of hair up to alopecia, chestnut skin and, at last follow\u2010up, in some of them proteinuria. Three female carriers showed a normal serum transferrin isoelectrofocusing but in two of them there was a persistent proteinuria.<\/jats:p>","DOI":"10.1002\/jmd2.12104","type":"journal-article","created":{"date-parts":[[2020,4,9]],"date-time":"2020-04-09T09:41:39Z","timestamp":1586425299000},"page":"80-82","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["ATP6AP1\u2010CDG: Follow\u2010up and female phenotype"],"prefix":"10.1002","volume":"53","author":[{"given":"Patryk","family":"Lipi\u0144ski","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Nutrition and Metabolic Diseases The Children's Memorial Health Institute  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dariusz","family":"Rokicki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nutrition and Metabolic Diseases The Children's Memorial Health Institute  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Bogda\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Radioimmunology and Experimental Medicine The Children's Memorial Health Institute  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Justyna","family":"Lesiak","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Kidney Transplantation and Hypertension Children's Memorial Health Institute  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dirk J.","family":"Lefeber","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Translational Metabolic Laboratory Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Tylki\u2010Szyma\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nutrition and Metabolic Diseases The Children's Memorial Health Institute  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,4,9]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms11600"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.01.008"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-017-0044-8"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm2272"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.11.003"},{"key":"e_1_2_4_7_1","first-page":"103799","article-title":"EXOME REPORT: novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities","author":"Shaw M","year":"2019","journal-title":"Eur J Med 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