Welsink-Karssies, Mendy M <br/><br/>
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.  [electronic resource] 

 -  Molecular genetics and metabolism  03 2020 
 - 171-176 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1096-7206 
<br/><br/><label>Standard No.: </label>10.1016/j.ymgme.2020.01.002  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cohort Studies<br/>Female<br/>Fibroblasts--metabolism<br/>Galactose--metabolism<br/>Galactosemias--diagnosis<br/>Galactosephosphates--metabolism<br/>Genotype<br/>Homozygote<br/>Humans<br/>Infant, Newborn<br/>Intellectual Disability--diagnosis<br/>Male<br/>Movement Disorders--diagnosis<br/>Neonatal Screening<br/>Phenotype