Acarregui, M J <br/><br/>
Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities.  [electronic resource] 

 -  The Journal of pediatrics  Nov 1998 
 - 697-700 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0022-3476 
<br/><br/><label>Standard No.: </label>10.1016/s0022-3476(98)70115-5  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Congenital Disorders of Glycosylation--diagnosis<br/>Fatal Outcome<br/>Female<br/>Humans<br/>Infant, Newborn<br/>Infant, Premature, Diseases--diagnosis<br/>Male<br/>Mannose-6-Phosphate Isomerase--blood<br/>Phosphotransferases (Phosphomutases)--blood<br/>Pregnancy<br/>Prenatal Diagnosis<br/>Thrombocytopenia--diagnosis