Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene,
is the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. …

Background A high percentage of patients with systemic sclerosis (SSc) develop interstitial
lung disease (ILD) during the course of the disease. Promising data have recently shown that …

Background Tetrahydrobiopterin (BH 4 ) deficiencies comprise a group of six rare neurometabolic
disorders characterized by insufficient synthesis of the monoamine neurotransmitters …

Background: Mesenchymal stem cells can differentiate into endothelial cells and participate
in angiogenesis in adults. In experimental models of acute myocardial infarction, …

Background Currently, assessment of dermal thickness in systemic sclerosis (SSc) is performed
by palpation and assessment using the modified Rodnan skin score (mRSS). Objective …

Objective. To assess skin elasticity in systemic sclerosis (SSc) by using a new imaging
modality, ultrasound elastography (UE). Methods. Our study included 18 consecutive patients …

Objectives To assess the reliability of the OMERACT ultrasound (US) definitions for the
identification of calcium pyrophosphate deposition disease (CPPD) at the metacarpal-phalangeal…

Congenital disorders of glycosylation (CDGs) form a genetically and clinically heterogeneous
group of diseases with aberrant protein glycosylation as a hallmark. A subgroup of CDGs …

Objective. To define the ultrasonographic characteristics of calcium pyrophosphate crystal (CPP)
deposits in joints and periarticular tissues and to evaluate the intra- and interobserver …

Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases
presenting with movement disorders and global developmental delay. This study presents the …