{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T18:09:50Z","timestamp":1791828590205,"version":"4.3.4"},"reference-count":33,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,11,12]],"date-time":"2014-11-12T00:00:00Z","timestamp":1415750400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Glycogen storage disease type III (GSDIII) is a rare autosomal recessive disorder due to glycogen debranching enzyme (GDE) deficiency. It results in a multisystemic disease with predominant hepatic and myopathic symptoms. While frequent social maladjustment has been observed in our clinical practice, cognitive and psychological disturbances have never been assessed. The aim of this pilot study was to examine and characterize the cognitive profile of patients with GSDIII.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Seven patients (six women and one man, mean age: 38.7\u2009\u00b1\u200911.6 years) with GSDIII underwent a neuropsychological set of tests assessing global cognitive efficiency, executive functions, social cognition, apathy, and episodic memory.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>All patients presented previous psychopathological history. We observed attention fluctuations for each patient, and impaired global cognitive efficiency with deficiencies in executive functions in 5\/7 patients. Emotional skills (social cognition) were impaired in five patients. Memory was mostly preserved.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The impairment in social cognition (recognition of emotions and ability to attribute mental states to others) and executive functions observed could be a consequence of orbito\u2010frontal dysfunction due to the abnormal glycogen metabolism characteristic of the underlying disease. These results are consistent with the hypothesis of a central nervous system involvement in patients with GSDIII, but need to be confirmed in future research. This could explain the social and economic difficulties, and the lack of compliance to the medical follow\u2010up presented by these patients. It suggests that these disturbances need to be taken into account when planning the medical management of patients with GSDIII.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s10545-014-9789-1","type":"journal-article","created":{"date-parts":[[2014,11,14]],"date-time":"2014-11-14T17:25:08Z","timestamp":1415985908000},"page":"573-580","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases"],"prefix":"10.1002","volume":"38","author":[{"given":"Claire\u2010C\u00e9cile","family":"Michon","sequence":"first","affiliation":[{"name":"APHP, Groupe Hospitalier Piti\u00e9\u2013Salp\u00eatri\u00e8re, Centre de R\u00e9f\u00e9rence des Pathologies Neuromusculaires Paris\u2010Est, Institut de Myologie 83 boulevard de l'H\u00f4pital Paris CEDEX 13 75680 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcela","family":"Gargiulo","sequence":"additional","affiliation":[{"name":"APHP, Groupe Hospitalier Piti\u00e9\u2013Salp\u00eatri\u00e8re, Centre de R\u00e9f\u00e9rence des Pathologies Neuromusculaires Paris\u2010Est, Institut de Myologie 83 boulevard de l'H\u00f4pital Paris CEDEX 13 75680 France"},{"name":"Laboratoire de Psychologie Clinique et Psychopathologie (EA 4056) Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Institut de Psychologie Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Hahn\u2010Barma","sequence":"additional","affiliation":[{"name":"APHP, Groupe Hospitalier Piti\u00e9\u2013Salp\u00eatri\u00e8re, Institut de la M\u00e9moire et de la Maladie d'Alzheimer Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Petit","sequence":"additional","affiliation":[{"name":"AP\u2010HP, H\u00f4pital Antoine B\u00e9cl\u00e8re, molecular genetics and metabolic diseases laboratory Clamart France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandra","family":"Nadaj\u2010Pakleza","sequence":"additional","affiliation":[{"name":"CHU Angers, Centre de r\u00e9f\u00e9rence des maladies neuromusculaires Nantes\/Angers, Service de Neurologie Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariane","family":"Herson","sequence":"additional","affiliation":[{"name":"APHP, Groupe Hospitalier Piti\u00e9\u2013Salp\u00eatri\u00e8re, Centre de R\u00e9f\u00e9rence des Pathologies Neuromusculaires Paris\u2010Est, Institut de Myologie 83 boulevard de l'H\u00f4pital Paris CEDEX 13 75680 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Eymard","sequence":"additional","affiliation":[{"name":"APHP, Groupe Hospitalier Piti\u00e9\u2013Salp\u00eatri\u00e8re, Centre de R\u00e9f\u00e9rence des Pathologies Neuromusculaires Paris\u2010Est, Institut de Myologie 83 boulevard de l'H\u00f4pital Paris CEDEX 13 75680 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Labrune","sequence":"additional","affiliation":[{"name":"APHP, H\u00f4pital Antoine\u2010B\u00e9cl\u00e8re, Centre de R\u00e9f\u00e9rence des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme H\u00e9patique Clamart France"},{"name":"University of Paris Sud, UFR Kremlin Bic\u00eatre Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Laforet","sequence":"additional","affiliation":[{"name":"APHP, Groupe Hospitalier Piti\u00e9\u2013Salp\u00eatri\u00e8re, Centre de R\u00e9f\u00e9rence des Pathologies Neuromusculaires Paris\u2010Est, Institut de Myologie 83 boulevard de l'H\u00f4pital Paris CEDEX 13 75680 France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,11,12]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181d3e44b"},{"key":"e_1_2_9_3_1","first-page":"1141","article-title":"Mini\u2010Mental State Examination (MMSE): un outil pratique pour l'\u00e9valuation de l'\u00e9tat cognitif des patients par le clinicien. 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