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Enzymes involved in this metabolic mechanism have ubiquitous distribution; thus, their alteration can cause systemic involvement and considerable phenotypic variability. Nephrotic syndrome (NS) is a clinical condition characterized by edema, hypoalbuminemia, hyperlipidemia, and proteinuria. We hereby report the case of a girl with central hypotonia, epilepsy, and severe psychomotor delay diagnosed with phosphomannomutase 2 deficiency (PMM2\u2010CDG) after presenting with nephrotic syndrome at age 4\u00a0years.<\/jats:p>","DOI":"10.1002\/ccr3.5347","type":"journal-article","created":{"date-parts":[[2022,2,10]],"date-time":"2022-02-10T09:48:54Z","timestamp":1644486534000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["PMM2\u2010CDG and nephrotic syndrome: A case report"],"prefix":"10.1002","volume":"10","author":[{"given":"Giuseppe","family":"Banderali","sequence":"first","affiliation":[{"name":"Clinical Department of Pediatrics ASST Santi Paolo Carlo San Paolo Hospital University of Milan Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Salvatici","sequence":"additional","affiliation":[{"name":"Clinical Department of Pediatrics ASST Santi Paolo Carlo San Paolo Hospital University of Milan Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7703-8635","authenticated-orcid":false,"given":"Valentina","family":"Rovelli","sequence":"additional","affiliation":[{"name":"Clinical Department of Pediatrics ASST Santi Paolo Carlo San Paolo Hospital University of Milan Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaak","family":"Jaeken","sequence":"additional","affiliation":[{"name":"Department of Regeneration and Development Center for Metabolic Diseases University Hospital Gasthuisberg Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,2,10]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-017-0050-6"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.11.012"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pcl.2018.08.006"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.72.5.445"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799174"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073808321041"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104903"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1991.tb12023.x"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.5347","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.5347","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.5347","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,27]],"date-time":"2023-08-27T13:08:00Z","timestamp":1693141680000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.5347"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2]]},"references-count":8,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,2]]}},"alternative-id":["10.1002\/ccr3.5347"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.5347","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2]]},"assertion":[{"value":"2021-12-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-14","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e05347"}}