We review the evidence that in Denmark and probably certain other European countries the
number of individuals identified with homocystinuria due to homozygosity for the widespread …

Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism
characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency …

The role of SGLT2 (the gene for a renal sodium-dependent glucose transporter) in renal
glucosuria was evaluated. Therefore, its genomic sequence and its intron-exon organization …

Robinow syndrome is a short-limbed dwarfism characterized by abnormal morphogenesis of
the face and external genitalia, and vertebral segmentation 1, 2. The recessive form of …

BACKGROUND & AIMS: Hartnup amino acid transporter B0AT1 (SLC6A19) is the major
luminal sodium-dependent neutral amino acid transporter of small intestine and kidney …

Mutations in electron transfer flavoprotein (ETF) and its dehydrogenase (ETFDH) are the
molecular basis of multiple acyl‐CoA dehydrogenation deficiency (MADD), an autosomal …

New insights into causative factors for the development of myelodysplasia (MDS) and acute
myeloid leukemia (AML), with associations to specific cytogenetic and genetic abnormalities …

The purpose of this study is to describe and analyze Apert and Crouzon skulls from three-
dimensional (3-D) reconstructions of CT-scans. 12 Apert patients and 19 with Crouzon …

Mutations in the gene for fibrillin-1 (FBN1) cause Marfan syndrome, an autosomal dominant
disorder of connective tissue with prominent manifestations in the skeletal, ocular, and …

Robinow syndrome is a genetically heterogeneous disorder characterized by mesomelic
limb shortening, genital hypoplasia, and distinctive facial features and for which both …