The role of protein phosphorylation in growth control and oncogenesis is well established.
Both protein-tyrosine kinases (PTKs) and protein-serine kinases (PSKs) act as signal …

Abstract Background Poland Syndrome (PS) is a rare congenital disorder presenting with
agenesis/hypoplasia of the pectoralis major muscle variably associated with thoracic and/or …

Purine nucleoside phosphorylase (PNP) deficiency is a rare combined immunodeficiency
disorder presenting with clinically recurrent infections, failure to thrive, various neurological …

PNPT1 (PNPase—polynucleotide phosphorylase) is involved in multiple RNA processing
functions in the mitochondria. Bi-allelic pathogenic PNPT1 variants cause heterogeneous …

PNP deficiency is an autosomal recessive metabolic disorder characterized by severe
combined immunodeficiency and by complex neurological symptomatology including ataxia …

We review here clinical, pathophysiological, diagnostic, genetic and molecular aspects of
Hypophosphatasia (HPP), a rare inherited metabolic disorder. The clinical presentation is a …

Elevated alkaline phosphatase activity in serum suggests bone or liver disease or a
neoplasm but can also indicate pregnancy or another benign condition. A family with benign …

BACKGROUND: Purine nucleoside phosphorylase (PNP) deficiency is an autosomal
recessive disease in which affected children present with recurrent infection and may …

Neonatal screening for phenylketonuria (PKU, OMIM: 261600) was introduced at the end of
the 1960s. We developed a rapid and simple molecular test for the most frequent …

Purine nucleoside phosphorylase (PNP) deficiency is an autosomal recessive genetic
disorder of the purine salvage pathway, associated with a variable extent of …