{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T13:36:42Z","timestamp":1785332202515,"version":"3.55.0"},"reference-count":33,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2009,7,1]],"date-time":"2009-07-01T00:00:00Z","timestamp":1246406400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pathologie Biologie"],"published-print":{"date-parts":[[2009,7]]},"DOI":"10.1016\/j.patbio.2008.05.005","type":"journal-article","created":{"date-parts":[[2008,6,27]],"date-time":"2008-06-27T08:57:37Z","timestamp":1214557057000},"page":"392-397","source":"Crossref","is-referenced-by-count":14,"title":["Mucopolysaccharidoses type I and IVA: Clinical features and consanguinity in Tunisia"],"prefix":"10.1016","volume":"57","author":[{"given":"S.","family":"Khedhiri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Chkioua","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Bouzidi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Dandana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Ben Turkia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Miled","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Laradi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.patbio.2008.05.005_bib1","unstructured":"Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The metabolic and molecular bases of inherited disease, 8th edn. New York: McGraw-Hill; 2001: 3421\u201352."},{"key":"10.1016\/j.patbio.2008.05.005_bib2","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1016\/0006-291X(74)91022-5","article-title":"Morquio\u2019s syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase","volume":"61","author":"Matalon","year":"1974","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.patbio.2008.05.005_bib3","first-page":"145","article-title":"On a form of familial osseous dystrophy","volume":"27","author":"Morquio","year":"1929","journal-title":"Bull Soc Pediatr"},{"key":"10.1016\/j.patbio.2008.05.005_bib4","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1016\/S0140-6736(67)91678-9","article-title":"Studying the mucopolysaccharidoses","volume":"2","author":"Maroteaux","year":"1967","journal-title":"Lancet"},{"issue":"4","key":"10.1016\/j.patbio.2008.05.005_bib5","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1111\/j.1399-0004.1986.tb01262.x","article-title":"Heterogeneity of Morquio disease","volume":"29","author":"Beck","year":"1986","journal-title":"Clin Genet"},{"key":"10.1016\/j.patbio.2008.05.005_bib6","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1007\/s10545-005-0197-4","article-title":"Mucopolysaccharidosis I: alpha-l-Iduronidase mutations in three Tunisian families","volume":"28","author":"Laradi","year":"2005","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.patbio.2008.05.005_bib7","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/j.ymgme.2005.11.001","article-title":"Mucopolysaccharidosis type IV: N-Acetylgalactosamine-6-sulfatase mutations in Tunisian patients","volume":"87","author":"Laradi","year":"2006","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.patbio.2008.05.005_bib8","first-page":"100","article-title":"Clinico-biologic and molecular study of mucopolysaccharidosis in central and southern Tunisia","volume":"59","author":"Laradi","year":"2001","journal-title":"Ann Biol Clin"},{"key":"10.1016\/j.patbio.2008.05.005_bib9","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s004399900075","article-title":"The frequency of lysosomal storage diseases in the Netherlands","volume":"105","author":"Poorthuis","year":"1999","journal-title":"Hum Genet"},{"key":"10.1016\/j.patbio.2008.05.005_bib10","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1007\/s004390050641","article-title":"Incidence of the mucopolysaccharidoses in Northern Ireland","volume":"101","author":"Nelson","year":"1997","journal-title":"Hum Genet"},{"key":"10.1016\/j.patbio.2008.05.005_bib11","series-title":"The metabolic and molecular basis of inherited disease","first-page":"2465","article-title":"The mucopolysaccharidoses","author":"Neufeld","year":"1995"},{"key":"10.1016\/j.patbio.2008.05.005_bib12","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1001\/jama.281.3.249","article-title":"Prevalence of lysosomal storage disorders","volume":"281","author":"Meikle","year":"1999","journal-title":"JAMA"},{"key":"10.1016\/j.patbio.2008.05.005_bib13","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1002\/humu.20257","article-title":"Mutation and polymorphism spectrum of the GALNS gene in Mucopolysaccharidosis IV A (Morquio A)","volume":"26","author":"Tomatsu","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1016\/j.patbio.2008.05.005_bib14","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1038\/sj.ejhg.5201044","article-title":"Prevalence of lysosomal storage diseases in Portugal","volume":"12","author":"Pinto","year":"2004","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.patbio.2008.05.005_bib15","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1016\/S0140-6736(06)68406-7","article-title":"Consanguinity: implications for practice, research, and policy","volume":"367","author":"Teebi","year":"2006","journal-title":"The Lancet"},{"key":"10.1016\/j.patbio.2008.05.005_bib16","series-title":"Genetic disorders among Arab populations","year":"1997"},{"key":"10.1016\/j.patbio.2008.05.005_bib17","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1136\/jmg.33.3.212","article-title":"Genetic referrals of Middle-Eastern origin in a western city: inbreeding and disease profile","volume":"33","author":"Hoodfar","year":"1996","journal-title":"J Med Genet"},{"key":"10.1016\/j.patbio.2008.05.005_bib18","first-page":"167","article-title":"Consanguinity in the population of northern Tunisia","volume":"67","author":"Riou","year":"1989","journal-title":"Tun Med"},{"key":"10.1016\/j.patbio.2008.05.005_bib19","first-page":"31","article-title":"Is the matrimonial choice transmettable in Tunisia?","volume":"7","author":"Ben M\u2019rad","year":"2004","journal-title":"Antropo"},{"key":"10.1016\/j.patbio.2008.05.005_bib20","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1002\/gepi.10321","article-title":"Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafness","volume":"27","author":"Ben Arab","year":"2004","journal-title":"Genet Epidemiol"},{"key":"10.1016\/j.patbio.2008.05.005_bib21","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1017\/S0021932097004914","article-title":"Consanguineous marriages in the United Arab Emirates","volume":"29","author":"Al-Gazali","year":"1997","journal-title":"J Biosoc Sci"},{"key":"10.1016\/j.patbio.2008.05.005_bib22","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1017\/S0021932000006660","article-title":"Inbreeding levels in Khartoum","volume":"20","author":"Saha","year":"1988","journal-title":"J Biosoc Sci"},{"key":"10.1016\/j.patbio.2008.05.005_bib23","first-page":"435","article-title":"Consanguinity and public health. Algerian study","volume":"41","author":"Benallegue","year":"1984","journal-title":"Arch Fr Pediatr"},{"key":"10.1016\/j.patbio.2008.05.005_bib24","doi-asserted-by":"crossref","first-page":"470","DOI":"10.26719\/1998.4.3.470","article-title":"Autosomal recessive disorders among patients attending the genetics clinic in Alexandria","volume":"4","author":"Mokhtar","year":"1998","journal-title":"East Mediterr Health J"},{"key":"10.1016\/j.patbio.2008.05.005_bib25","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1136\/jmg.20.1.58","article-title":"Consanguineous matings in the Egyptian population","volume":"20","author":"Hafez","year":"1983","journal-title":"J Med Genet"},{"key":"10.1016\/j.patbio.2008.05.005_bib26","unstructured":"Alwan A, Modell B. Community control of genetic and congenital disorders. Alexandria, World Health Organization Regional Office for the Eastern Mediterranean, 1997 (EMRO Technical Publications Series, No. 24)."},{"key":"10.1016\/j.patbio.2008.05.005_bib27","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1007\/s10038-003-0037-z","article-title":"Fanconi anemia in Tunisia: High prevalence of group A and identification of new FANCA mutations","volume":"48","author":"Bouchlaka Ch","year":"2003","journal-title":"J Hum Genet"},{"key":"10.1016\/j.patbio.2008.05.005_bib28","doi-asserted-by":"crossref","first-page":"127137","DOI":"10.1016\/j.cccn.2003.10.022","article-title":"Clinical and molecular aspects of hemoglobinopathies in Tunisia","volume":"340","author":"Haj Khelil","year":"2004","journal-title":"Clin Chim Acta"},{"issue":"Pt1","key":"10.1016\/j.patbio.2008.05.005_bib29","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1046\/j.1469-1809.1999.6310009.x","article-title":"Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects","volume":"63","author":"Alif","year":"1999","journal-title":"Ann Hum Genet"},{"issue":"4","key":"10.1016\/j.patbio.2008.05.005_bib30","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1002\/humu.1380010412","article-title":"Alpha-Liduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype","volume":"1","author":"Scott","year":"1992","journal-title":"Hum Mutat"},{"key":"10.1016\/j.patbio.2008.05.005_bib31","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1111\/j.1365-2133.2003.05606.x","article-title":"A novel missense mutations in the encoding SLURP-1 in patients with Mal de Meleda from northern Tunisie","volume":"149","author":"Charfeddine","year":"2003","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.patbio.2008.05.005_bib32","first-page":"239","article-title":"The effects of parental consanguinity and inbreeding in Hirado, Japan. I. Stillbirths and prereproductive mortality","volume":"22","author":"Schull","year":"1970","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.patbio.2008.05.005_bib33","doi-asserted-by":"crossref","first-page":"457","DOI":"10.5694\/j.1326-5377.1988.tb120728.x","article-title":"Pregnancy outcomes in Lebanese-born women in Western Sydney","volume":"149","author":"De Costa","year":"1988","journal-title":"Med J Aust"}],"container-title":["Pathologie Biologie"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0369811408001466?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0369811408001466?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,5,19]],"date-time":"2023-05-19T00:30:50Z","timestamp":1684456250000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0369811408001466"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,7]]},"references-count":33,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2009,7]]}},"alternative-id":["S0369811408001466"],"URL":"https:\/\/doi.org\/10.1016\/j.patbio.2008.05.005","relation":{},"ISSN":["0369-8114"],"issn-type":[{"value":"0369-8114","type":"print"}],"subject":[],"published":{"date-parts":[[2009,7]]}}}