{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T06:53:09Z","timestamp":1761807189159},"reference-count":33,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,1,12]],"date-time":"2006-01-12T00:00:00Z","timestamp":1137024000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2006,3]]},"abstract":"<jats:p>Gaucher disease is an uncommon autosomal recessive disorder characterized by lysosomal storage of glucosyl ceramide, a material released during cell degradation. Patients with Gaucher disease often have significant hematologic, bone structural, and visceral problems which sometimes greatly affect their health and life style. Based on some extraordinary scientific discoveries over the past 45 years, a treatment system has evolved which consists of administration of an enzyme, which destroys the lysosome\u2010stored material and to some extent restores the patients to good health. There are still some problems for these patients; however, and the purpose of the study is to define some of the clinical, sociologic, and psychologic problems with a specially designed questionnaire. Questionnaire data was collected for 128 patients from two institutions with complete anonymity, and the information compared against data from a National Health Inteview Survey. The results show that many of the patients still have fairly extensive problems, which could possibly be helped by some alterations in treatment protocols.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2006.00573.x","type":"journal-article","created":{"date-parts":[[2006,1,12]],"date-time":"2006-01-12T16:54:26Z","timestamp":1137084866000},"page":"209-217","source":"Crossref","is-referenced-by-count":14,"title":["A questionnaire study for 128 patients with Gaucher disease"],"prefix":"10.1111","volume":"69","author":[{"given":"HJ","family":"Mankin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"CA","family":"Trahan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"NA","family":"Barnett","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Laughead","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"CM","family":"Bove","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"GM","family":"Pastores","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,2,8]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1008814105603"},{"key":"e_1_2_6_3_2","doi-asserted-by":"crossref","first-page":"748","DOI":"10.2106\/00004623-200105000-00016","article-title":"Gaucher disease: new approaches to an ancient disease","volume":"83","author":"Mankin HJ","year":"2001","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/s002560050120"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9343(02)01150-6"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199111073251906"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(65)90743-6"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1042\/bj0970017C"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb03268.x"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420315"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.10.4620"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.5.1913"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(78)90102-2"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/0304-4165(81)90474-8"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199105233242104"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0950-3536(97)80038-8"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050340"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1008859420641"},{"key":"e_1_2_6_19_2","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1542\/peds.96.4.629","article-title":"Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage targeted glucocerebrosidase","volume":"96","author":"Rosenthal DI","year":"1995","journal-title":"Pediatrics"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(03)00071-4"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1022548232735"},{"key":"e_1_2_6_22_2","first-page":"349","article-title":"Gene therapy for the lysosomal storage disorders","volume":"4","author":"Cabrera\u2010Salazar MA","year":"2002","journal-title":"Curr Opin Mol Ther"},{"key":"e_1_2_6_23_2","doi-asserted-by":"crossref","first-page":"2835","DOI":"10.1001\/archinte.160.18.2835","article-title":"The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease","volume":"160","author":"Charrow J","year":"2000","journal-title":"Arch Intern Med"},{"key":"e_1_2_6_24_2","unstructured":"Lethbridge\u2010CejkaM SchillerJS BernadelL.Summary health statistics for US adults. 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