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We performed a characterization of a large Italian cohort of 30 patients with GSD type 0a, VI, IXa, IXb and IXc. A retrospective evaluation of genetical, auxological and endocrinological data, biochemical tests, and nutritional intakes was assessed. Eventual findings of overweight\/obesity and insulin-resistance were correlated with diet composition.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Six GSD-0a, 1 GSD-VI, and 23 GSD-IX patients were enrolled, with an age of presentation from 0 to 72\u00a0months (median 14\u00a0months). Diagnosis was made at a median age of 30\u00a0months, with a median diagnostic delay of 11\u00a0months and a median follow-up of 66\u00a0months. From first to last visit, patients gained a median height of 0.6 SDS (from\u2009\u2212\u20091.1 to 2.1 SDS) and a median weight of 0.5 SDS (from\u2009\u2212\u20092.5 to 3.3 SDS); mean and minimal glucose values significant improved (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.05). With respect to dietary intakes, protein intake (g\/kg) and protein intake (g\/kg)\/RDA ratio directly correlated with the glucose\/insulin ratio (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.05) and inversely correlated with HOMA-IR (Homeostasis model assessment of insulin resistance,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.05), BMI SDS (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.05) and %ibw (ideal body weight percentage,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.01).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>A prompt establishment of specific nutritional therapy allowed to preserve growth, improve glycemic control and prevent liver complication, during childhood. Remarkably, the administration of a high protein diet appeared to have a protective effect against overweight\/obesity and insulin-resistance.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-022-02431-5","type":"journal-article","created":{"date-parts":[[2022,7,19]],"date-time":"2022-07-19T07:06:59Z","timestamp":1658214419000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort"],"prefix":"10.1186","volume":"17","author":[{"given":"Francesco","family":"Tagliaferri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Massese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Russo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Commone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Gasperini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Pretese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Dionisi-Vici","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9986-1385","authenticated-orcid":false,"given":"Arianna","family":"Maiorana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,7,19]]},"reference":[{"key":"2431_CR1","doi-asserted-by":"publisher","first-page":"304","DOI":"10.5114\/aoms.2019.83063","volume":"17","author":"E Szyma\u0144ska","year":"2021","unstructured":"Szyma\u0144ska E, J\u00f3\u017awiak-Dzi\u0229cielewska DA, Gronek J, Niewczas M, Czarny W, Rokicki D, et al. 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Ethical approval was waived for this study because it was a retrospective clinical study. Informed consent was obtained from all subjects involved in the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent has been obtained from the patients to publish this paper.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"285"}}