Literature DB >> 15236718

Mucolipidosis type IV a rare genetic disorder: new addition to the Ashkenazi Jewish panel.

Roxann M Gordon1, Teresa Marchese.   

Abstract

Mucolipidosis type IV (MLIV) is a rare genetic disorder that primarily affects persons of Ashkenazi Jewish descent. Current information available about testing options and the Ashkenazi Jewish Screening panel, including the addition of screening for MLIV, is presented. The importance of genetic screening and counseling is emphasized.

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Year:  2004        PMID: 15236718     DOI: 10.1016/j.jmwh.2004.04.009

Source DB:  PubMed          Journal:  J Midwifery Womens Health        ISSN: 1526-9523            Impact factor:   2.388


  1 in total

1.  Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder.

Authors:  Joseph S Geer; Steve A Skinner; Ehud Goldin; Kenton R Holden
Journal:  Pediatr Neurol       Date:  2010-03       Impact factor: 3.372

  1 in total

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