{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T18:12:09Z","timestamp":1790187129838,"version":"4.1.0"},"reference-count":0,"publisher":"Pakistan Journal of Medical Sciences","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pak J Med Sci"],"abstract":"<jats:p>Triple A (Allgrove) syndrome, an autosomal recessive disease is characterized by achalasia, alacrimia and ACTH-resistant adrenal failure with progressive neurological syndrome including central, peripheral and autonomic nervous system impairment, and mild mental retardation. The triple A syndrome gene, designated AAAS, localized on chromosome 12q 13 encodes for a 546 amino acid protein called ALADIN (Alacrimia-Achlasia-Adrenal Insufficiency and Neurologic disorder).This report relates to two sisters, aged 8 and 12 years, who had vomiting, muscle weakness, alacrimia, excessive fatigue and dysphagia. Abdominal sonography, esophago-gastroduodenoscopy, barium swallow, esophageal manometry, CT scan abdomen and brain, biochemical profiles, as well as neurologic and ophthalmic evaluations were consistent with Allgrove<\/jats:p>","DOI":"10.12669\/pjms.336.13684","type":"journal-article","created":{"date-parts":[[2017,12,16]],"date-time":"2017-12-16T02:29:46Z","timestamp":1513391386000},"source":"Crossref","is-referenced-by-count":8,"title":["AAA Syndrome, Case Report of a Rare Disease"],"prefix":"10.12669","volume":"33","author":[{"given":"S. Waqar H.","family":"Shah","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arshad K.","family":"Butt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Malik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Altaf","family":"Alam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adnan","family":"Shahzad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anwaar Ahmed","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"4935","published-online":{"date-parts":[[2017,12,20]]},"container-title":["Pakistan Journal of Medical Sciences"],"original-title":[],"link":[{"URL":"https:\/\/pjms.org.pk\/index.php\/pjms\/article\/download\/19104\/9997","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/pjms.org.pk\/index.php\/pjms\/article\/download\/19104\/9997","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,10]],"date-time":"2026-05-10T01:47:23Z","timestamp":1778377643000},"score":1,"resource":{"primary":{"URL":"https:\/\/pjms.org.pk\/index.php\/pjms\/article\/view\/19104"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12,20]]},"references-count":0,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2017,11,15]]}},"URL":"https:\/\/doi.org\/10.12669\/pjms.336.13684","relation":{},"ISSN":["1681-715X","1682-024X"],"issn-type":[{"value":"1681-715X","type":"electronic"},{"value":"1682-024X","type":"print"}],"subject":[],"published":{"date-parts":[[2017,12,20]]}}}