Using exome sequencing, we identify SERAC1 mutations as the cause of MEGDEL
syndrome, a recessive disorder of dystonia and deafness with Leigh-like syndrome, impaired …

Mucopolysaccharidosis IIIA (MPS IIIA) is a lysosomal storage disorder characterized by
progressive mental deterioration and severe behavioral problems. We conducted an open-label, …

… Sema Kalkan Ucar: The author declares that she has no competing interests. Mohit Jain:
Receiving financial support/salary as employee of BioMarin. Lisa Bell: Receiving financial …

Purpose This paper aims to report collective information on safety and efficacy of empagliflozin
drug repurposing in individuals with glycogen storage disease type Ib (GSD Ib). Methods …

Proteoglycan (PG) synthesis begins with the sequential addition of a “linker chain”, made up
of four sugar residues, to a specific region of a core protein. Defects in the enzymes …

The aim of the present study is to clarify the low density lipoprotein apheresis procedure for
pediatric patients with homozygous familial hypercholesterolemia (FH) in terms of efficacy, …

… Das g , Mübeccel Demirkol d , Maaike de Vries h , Gülden Gökçay d , Johannes Häberle i
, Sema Kalkan Uçar f , Amelie Sophia Lotz-Havla j , Thomas Lücke k , Dominique Roland l , …

Background Biotinidase deficiency (BD) is an autosomal recessively inherited disorder of
biotin recycling. It is classified into two levels based on the biotinidase enzyme activity: partial …

Biotinidase deficiency is characterized by severe neurological manifestations as hypotonia,
lethargy, ataxia, hearing loss, seizures and developmental retardation in its classical form. …

Pediatric movement disorders are still a diagnostic challenge, as many patients remain without
a (genetic) diagnosis. Magnetic resonance imaging (MRI) pattern recognition can lead to …