Desbuquois dysplasia (DD) is characterized by antenatal and postnatal short stature, multiple
dislocations, and advanced carpal ossification. Two forms have been distinguished on the …

Propionic acidemia manifesting with hyperglycemia is rare. Few cases have been reported
mainly of the neonatal-onset form associated with high mortality. We report a 9-month-old …

Isolated complex III (cIII) deficiency is a rare biochemical finding in mitochondrial disorders,
mainly associated with mutations in mitochondrial DNA MTCYB gene, encoding cytochrome …

Objective To investigate the spectrum of mutations and genotypes in the pyrin gene in
familial Mediterranean fever (FMF) patients. Methods Blood samples of 511 suspected FMF …

Objective This study focuses on the genetic aspect of beta-thalassemia among 88 at risk
couples from the West Bank and Gaza, and the attitude of these couples toward prenatal …

We studied three newly diagnosed xeroderma pigmentosum complementation group G
patients with markedy different clinical features. An Israeli-Palestinian girl (XP96TA) had severe …

Primary bile acid malabsorption is associated with congenital diarrhea, steatorrhea, and a
block in the intestinal return of bile acids in the enterohepatic circulation. Mutations in the ileal …

Ubiquitination is a posttranslational modification that regulates many cellular processes
including protein degradation, intracellular trafficking, cell signaling, and protein-protein …

SLC4A10 is a plasma-membrane bound transporter that utilizes the Na + gradient to drive
cellular HCO 3 − uptake, thus mediating acid extrusion. In the mammalian brain, SLC4A10 is …

Background L-serine plays an essential role in neuronal development and function. Although
a non-essential amino acid, L-serine must be synthesised within the brain because of its …