Fujimoto, A <br/><br/>
Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease.  [electronic resource] 

 -  American journal of medical genetics  Nov 1995 
 - 356-8 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0148-7299 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.1320590315  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amniocentesis<br/>Ceramides--metabolism<br/>Diagnosis, Differential<br/>Epidermis--metabolism<br/>Fatal Outcome<br/>Female<br/>Fetal Diseases--diagnosis<br/>Gaucher Disease--classification<br/>Glucosylceramidase--analysis<br/>Humans<br/>Ichthyosis--diagnosis<br/>Ichthyosis, X-Linked--diagnosis<br/>Infant, Newborn<br/>Male<br/>Prognosis