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X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome

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Year: 2003
Type: article
Study design: Case Report
Source: European Journal of Human Genetics
DOI: 10.1038/sj.ejhg.5201072
Authors: A Lauren Cason, Yoshihiko Ikeguchi, Cindy Skinner, Tim C Wood, Kenton R Holden, Herbert A Lubs, Francisco Martinez, Richard J Simensen, Roger E Stevenson, Anthony E Pegg, Charles E Schwartz
Institutions: Greenwood Genetic Center, Pennsylvania State University, University of Miami, Hospital Universitari i Politècnic La Fe
Language: English

Topic: Polyamine Metabolism and Applications
Subfield: Molecular Biology
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed

Funders: National Institutes of Health, National Institute of Mental Health, National Institute of General Medical Sciences, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Awards: G1755016745, G194938417, INFRASTRUCTURE FOR RESEARCH ON MENTAL DISABILITIES, Investigations of Mammalian Aminopropyltransferases, G6890060819, X-Linked Mental Retardation-Linkage
OpenAlex ID: W1988958893
FWCI: 1.724
Cites: 41
Cited by: 176
Related to: 10
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