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New observation of sialuria prompts detection of liver tumor in previously reported patient.

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Title: New observation of sialuria prompts detection of liver tumor in previously reported patient.
Authors: Champaigne NL; Greenwood Genetic Center, Greenwood, SC, USA. Electronic address: neena@ggc.org., Leroy JG; Greenwood Genetic Center, Greenwood, SC, USA., Kishnani PS; Duke University Medical Center, Division of Medical Genetics, Durham, NC, USA., Decaestecker J; Delta General Hospital, Department of Gastroenterology & Hepatology, Department of Pathology, Roeselare, Belgium., Steenkiste E; Delta General Hospital, Department of Gastroenterology & Hepatology, Department of Pathology, Roeselare, Belgium., Chaubey A; Greenwood Genetic Center, Greenwood, SC, USA., Li J; Simon Fraser University, Department of Molecular Biology and Biochemistry, Burnaby, British Columbia, Canada., Verslype C; University Hospital Leuven, Department of Hepatology, Leuven, Belgium., Van Dorpe J; Ghent University Hospital, School of Medicine, N. Goormaghtigh Institute for Pathology, Ghent, Belgium., Pollard L; Greenwood Genetic Center, Greenwood, SC, USA., Goldstein JL; Duke University Medical Center, Division of Medical Genetics, Durham, NC, USA., Libbrecht L; Ghent University Hospital, School of Medicine, N. Goormaghtigh Institute for Pathology, Ghent, Belgium., Basehore M; Greenwood Genetic Center, Greenwood, SC, USA., Chen N; Simon Fraser University, Department of Molecular Biology and Biochemistry, Burnaby, British Columbia, Canada., Hu H; Eastern Hepatobiliary Surgery Hospital, Second Military Medical University, Department of Hepatobiliary Medicine, Shanghai, China., Wood T; Greenwood Genetic Center, Greenwood, SC, USA., Friez MJ; Greenwood Genetic Center, Greenwood, SC, USA., Huizing M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Stevenson RE; Greenwood Genetic Center, Greenwood, SC, USA.
Source: Molecular genetics and metabolism [Mol Genet Metab] 2016 Jun; Vol. 118 (2), pp. 92-9. Date of Electronic Publication: 2016 Apr 16.
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: New observation of sialuria prompts detection of liver tumor in previously reported patient.
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  Data: <searchLink fieldCode="AU" term="%22Champaigne+NL%22">Champaigne NL</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA. Electronic address: neena@ggc.org.<br /><searchLink fieldCode="AU" term="%22Leroy+JG%22">Leroy JG</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Kishnani+PS%22">Kishnani PS</searchLink>; Duke University Medical Center, Division of Medical Genetics, Durham, NC, USA.<br /><searchLink fieldCode="AU" term="%22Decaestecker+J%22">Decaestecker J</searchLink>; Delta General Hospital, Department of Gastroenterology & Hepatology, Department of Pathology, Roeselare, Belgium.<br /><searchLink fieldCode="AU" term="%22Steenkiste+E%22">Steenkiste E</searchLink>; Delta General Hospital, Department of Gastroenterology & Hepatology, Department of Pathology, Roeselare, Belgium.<br /><searchLink fieldCode="AU" term="%22Chaubey+A%22">Chaubey A</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Li+J%22">Li J</searchLink>; Simon Fraser University, Department of Molecular Biology and Biochemistry, Burnaby, British Columbia, Canada.<br /><searchLink fieldCode="AU" term="%22Verslype+C%22">Verslype C</searchLink>; University Hospital Leuven, Department of Hepatology, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Van+Dorpe+J%22">Van Dorpe J</searchLink>; Ghent University Hospital, School of Medicine, N. Goormaghtigh Institute for Pathology, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Pollard+L%22">Pollard L</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Goldstein+JL%22">Goldstein JL</searchLink>; Duke University Medical Center, Division of Medical Genetics, Durham, NC, USA.<br /><searchLink fieldCode="AU" term="%22Libbrecht+L%22">Libbrecht L</searchLink>; Ghent University Hospital, School of Medicine, N. Goormaghtigh Institute for Pathology, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Basehore+M%22">Basehore M</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Chen+N%22">Chen N</searchLink>; Simon Fraser University, Department of Molecular Biology and Biochemistry, Burnaby, British Columbia, Canada.<br /><searchLink fieldCode="AU" term="%22Hu+H%22">Hu H</searchLink>; Eastern Hepatobiliary Surgery Hospital, Second Military Medical University, Department of Hepatobiliary Medicine, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Wood+T%22">Wood T</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Friez+MJ%22">Friez MJ</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Huizing+M%22">Huizing M</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Stevenson+RE%22">Stevenson RE</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.
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  Data: <searchLink fieldCode="JN" term="%229805456%22">Molecular genetics and metabolism</searchLink> [Mol Genet Metab] 2016 Jun; Vol. 118 (2), pp. 92-9. <i>Date of Electronic Publication: </i>2016 Apr 16.
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  Data: Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Academic+Press%22">Academic Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9805456 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1096-7206 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210967192%22">10967192 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Metab <i>Subsets: </i>MEDLINE
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              Text: 2016 Jun
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