{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T18:09:18Z","timestamp":1791828558885,"version":"4.3.4"},"reference-count":54,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2021,8,27]],"date-time":"2021-08-27T00:00:00Z","timestamp":1630022400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","award":["88882.346200\/2019-01"],"award-info":[{"award-number":["88882.346200\/2019-01"]}],"id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Fundo de Incentivo \u00e0 Pesquisa e Eventos","award":["15-0218"],"award-info":[{"award-number":["15-0218"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nutrients"],"abstract":"<jats:p>The association between bone mineral density (BMD) and hepatic glycogen storage diseases (GSDs) is still unclear. To evaluate the BMD of patients with GSD I, IIIa and IX\u03b1, a cross-sectional study was performed, including 23 patients (GSD Ia = 13, Ib = 5, IIIa = 2 and IX\u03b1 = 3; median age = 11.9 years; IQ = 10.9\u201320.1) who underwent a dual-energy X-ray absorptiometry (DXA). Osteocalcin (OC, n = 18), procollagen type 1 N-terminal propeptide (P1NP, n = 19), collagen type 1 C-terminal telopeptide (CTX, n = 18) and 25-OH Vitamin D (n = 23) were also measured. The participants completed a 3-day food diary (n = 20). Low BMD was defined as a Z-score \u2264 \u22122.0. All participants were receiving uncooked cornstarch (median dosage = 6.3 g\/kg\/day) at inclusion, and 11 (47.8%) presented good metabolic control. Three (13%) patients (GSD Ia = 1, with poor metabolic control; IIIa = 2, both with high CPK levels) had a BMD \u2264 \u22122.0. CTX, OC and P1NP correlated negatively with body weight and age. 25-OH Vitamin D concentration was decreased in seven (30.4%) patients. Our data suggest that patients with hepatic GSDs may have low BMD, especially in the presence of muscular involvement and poor metabolic control. Systematic nutritional monitoring of these patients is essential.<\/jats:p>","DOI":"10.3390\/nu13092987","type":"journal-article","created":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T04:07:28Z","timestamp":1630382848000},"page":"2987","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases"],"prefix":"10.3390","volume":"13","author":[{"given":"J\u00e9sica Tamara","family":"Jacoby","sequence":"first","affiliation":[{"name":"Graduate Program in Medical Sciences Medicine, Department of Medical College, Universidade Federal do Rio Grande do Sul, Porto Alegre 90040-060, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6291-0857","authenticated-orcid":false,"given":"Bruna","family":"Bento dos Santos","sequence":"additional","affiliation":[{"name":"Graduate Program in Genetics and Molecular Biology, Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre 90040-060, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiele","family":"Nalin","sequence":"additional","affiliation":[{"name":"Basic Research and Advanced Investigations in Neurosciences (BRAIN) Laboratory, Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, Brazil"},{"name":"Ultragenyx Brasil Farmac\u00eautica Ltda, S\u00e3o Paulo 07093-080, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karina","family":"Colonetti","sequence":"additional","affiliation":[{"name":"Graduate Program in Genetics and Molecular Biology, Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre 90040-060, Brazil"},{"name":"Basic Research and Advanced Investigations in Neurosciences (BRAIN) Laboratory, Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00edlia","family":"Farret Refosco","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, Brazil"},{"name":"Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre 90040-060, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7280-6260","authenticated-orcid":false,"given":"Carolina","family":"F. 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