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Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.

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Title: Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.
Authors: Martins C; Department of Biochemistry and Molecular Medicine, Université de Montréal, Montreal, Quebec, Canada.; Research Center, CHU Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada., de Medeiros PFV; Hospital Universitário Alcides Carneiro-HUAC, Federal University of Campina Grande, Campina Grande, Paraiba, Brazil., Leistner-Segal S; Department of Genetics, UFRGS, Medical Genetics Service, Hospital de Clínicas de Porto Alegre-HCPA, and Brazilian National Institute of Population Medical Genetics-INAGEMP, Porto Alegre, Brazil., Dridi L; Research Center, CHU Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada., Elcioglu N; Department of Pediatric Genetics, Marmara University Hospital, Istanbul, Turkey., Wood J; Jonah's Just Begun-Foundation to Cure Sanfilippo Inc, Brooklyn, New York, USA., Behnam M; Medical Genetics Center of Genome, Isfahan, Islamic Republic of Iran., Noyan B; Department of Pediatric Genetics, Marmara University Hospital, Istanbul, Turkey., Lacerda L; Biochemical Genetics Unit, Institute of Medical Genetics Jacinto Magalhães, Centro Hospitalar do Porto, Porto, Portugal., Geraghty MT; Department of Pathology and Laboratry Medicine, Children's Hospital of Eastern Ontario, Ottawa, Canada., Labuda D; Research Center, CHU Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada., Giugliani R; Department of Genetics, UFRGS, Medical Genetics Service, Hospital de Clínicas de Porto Alegre-HCPA, and Brazilian National Institute of Population Medical Genetics-INAGEMP, Porto Alegre, Brazil., Pshezhetsky AV; Department of Biochemistry and Molecular Medicine, Université de Montréal, Montreal, Quebec, Canada.; Research Center, CHU Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada.
Source: Human mutation [Hum Mutat] 2019 Aug; Vol. 40 (8), pp. 1084-1100. Date of Electronic Publication: 2019 Jun 22.
Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.
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  Data: <searchLink fieldCode="AU" term="%22Martins+C%22">Martins C</searchLink>; Department of Biochemistry and Molecular Medicine, Université de Montréal, Montreal, Quebec, Canada.; Research Center, CHU Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22de+Medeiros+PFV%22">de Medeiros PFV</searchLink>; Hospital Universitário Alcides Carneiro-HUAC, Federal University of Campina Grande, Campina Grande, Paraiba, Brazil.<br /><searchLink fieldCode="AU" term="%22Leistner-Segal+S%22">Leistner-Segal S</searchLink>; Department of Genetics, UFRGS, Medical Genetics Service, Hospital de Clínicas de Porto Alegre-HCPA, and Brazilian National Institute of Population Medical Genetics-INAGEMP, Porto Alegre, Brazil.<br /><searchLink fieldCode="AU" term="%22Dridi+L%22">Dridi L</searchLink>; Research Center, CHU Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Elcioglu+N%22">Elcioglu N</searchLink>; Department of Pediatric Genetics, Marmara University Hospital, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Wood+J%22">Wood J</searchLink>; Jonah's Just Begun-Foundation to Cure Sanfilippo Inc, Brooklyn, New York, USA.<br /><searchLink fieldCode="AU" term="%22Behnam+M%22">Behnam M</searchLink>; Medical Genetics Center of Genome, Isfahan, Islamic Republic of Iran.<br /><searchLink fieldCode="AU" term="%22Noyan+B%22">Noyan B</searchLink>; Department of Pediatric Genetics, Marmara University Hospital, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Lacerda+L%22">Lacerda L</searchLink>; Biochemical Genetics Unit, Institute of Medical Genetics Jacinto Magalhães, Centro Hospitalar do Porto, Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Geraghty+MT%22">Geraghty MT</searchLink>; Department of Pathology and Laboratry Medicine, Children's Hospital of Eastern Ontario, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22Labuda+D%22">Labuda D</searchLink>; Research Center, CHU Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Giugliani+R%22">Giugliani R</searchLink>; Department of Genetics, UFRGS, Medical Genetics Service, Hospital de Clínicas de Porto Alegre-HCPA, and Brazilian National Institute of Population Medical Genetics-INAGEMP, Porto Alegre, Brazil.<br /><searchLink fieldCode="AU" term="%22Pshezhetsky+AV%22">Pshezhetsky AV</searchLink>; Department of Biochemistry and Molecular Medicine, Université de Montréal, Montreal, Quebec, Canada.; Research Center, CHU Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE
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