{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T10:59:56Z","timestamp":1790593196598,"version":"4.1.0"},"reference-count":50,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T00:00:00Z","timestamp":1789257600000},"content-version":"vor","delay-in-days":12,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Asparagine synthetase deficiency (ASNSD) is a rare metabolic disease causing congenital microcephaly, severe developmental delay, and spastic quadriplegia. Although the central nervous system is severely affected, other organ systems appear unaffected by asparagine deficiency. We present an infant homozygous for the mutation c.904\u20101G&gt;A in the\n                    <jats:italic>ASNS<\/jats:italic>\n                    gene, whose clinical presentation and radiological findings were typical for ASNSD. Following the patient's death at the age of 6\u2009months, histological and immunohistochemical examination of the telencephalon revealed a vast disturbance of migration of neuronal subpopulations, consequently severe disorganization of cortical layers, and thinning of the cerebral cortex. These findings provide novel insights into disease pathogenesis and may explain the hallmark features of ASNSD, including microcephaly and epilepsy.\n                  <\/jats:p>","DOI":"10.1002\/jmd2.70126","type":"journal-article","created":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T05:29:42Z","timestamp":1789363782000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Asparagine Synthetase Deficiency: Neuropathological Evidence of Disrupted Cortical Development"],"prefix":"10.1002","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1588-7658","authenticated-orcid":false,"given":"Mihaela","family":"Bobi\u0107","sequence":"first","affiliation":[{"name":"Croatian Institute for Brain Research University of Zagreb, School of Medicine  Zagreb Croatia"},{"name":"Scientific Centre of Excellence for Basic, Clinical and Translational Neuroscience University of Zagreb, School of Medicine  Zagreb 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