Background Data provided by the social sciences as well as genetic research suggest that
the 8-10 million Roma (Gypsies) who live in Europe today are best described as a …

Objectives. Roma health issues are under-studied from a comprehensive, epidemiological
perspective. The Roma peoples (including 'Travellers') have been living in and around …

The identification of a growing number of novel Mendelian disorders and private mutations
in the Roma (Gypsies) points to their unique genetic heritage. Linguistic evidence suggests …

This is not another book about Gypsies or Roma, how they currently are categorized.
Instead, it is one about the history of their classification and about their classifiers. The …

The 8–10 million European Roma/Gypsies are a founder population of common origins that
has subsequently split into multiple socially divergent and geographically dispersed Gypsy …

Galactokinase deficiency (McKusick 230200) is a rare autosomal recessive inborn error of
galactose metabolism. Cataract and, rarely, pseudotumor cerebri caused by galactitol …

A deficiency of each of the three enzymes important in galactose metabolism, galactose-1-
phosphate uridyltransferase (GALT), galactokinase (GALK) and UDP-galactose 4 …

Cataracts are the principal cause of treatable blindness worldwide. Inherited congenital
cataract (CC) shows all types of inheritance patterns in a syndromic and nonsyndromic form …

It has been 50 years since the first newborn screening (NBS) test for galactosemia was
conducted in Oregon, and almost 10 years since the last US state added galactosemia to …

In most organisms, productive utilization of galactose requires the highly conserved Leloir
pathway of galactose metabolism. Yet, if this metabolic pathway is perturbed due to …