New observation of sialuria prompts detection of liver tumor in previously reported patient-Reference-Cited by-同舟云学术

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

Published:2016-06 Issue:2 Volume:118 Page:92-99
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Champaigne Neena L.,Leroy Jules G.,Kishnani Priya S.,Decaestecker Jochen,Steenkiste Edwin^ORCID,Chaubey Alka,Li Jiarui,Verslype Chris,Van Dorpe Jo,Pollard Laura,Goldstein Jennifer L.,Libbrecht Louis,Basehore Monica,Chen Nansheng,Hu Heping,Wood Tim,Friez Michael J.,Huizing Marjan,Stevenson Roger E.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference22 articles.

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2. Description of a new type of melturia called sialuria;Montreuil;Clin. Chim. Acta,1968

3. Sialuria: a second case;Wilcken;J. Inherit. Metab. Dis.,1987

4. Sialic acid metabolism in sialuria fibroblasts;Seppala;J. Biol. Chem.,1991

5. Clinical and biochemical studies in an American child with sialuria;Krasnewich;Biochem. Med. Metab. Biol.,1993

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3. Sialuria: Ninth Patient Described Has a Novel Mutation in GNE;JIMD Reports;2018