PREPL deficiency: delineation of the phenotype and development of a functional blood assay - Régal, Luc; Mårtensson, Emma; Maystadt, Isabelle; Voermans, Nicol; Lederer, Damien; Burlina, Alberto; Juan Fita, María Jesús; Hoogeboom, A. Jeannette M.; Olsson Engman, Mia; Hollemans, Tess; Schouten, Meyke; Meulemans, Sandra; et al. (Genetics in medicine, 2018)
Keywords: 692/699/1702; 692/700/139/1512; 692/700/1720/3186; Adolescent; Adult; Biomedical and Life Sciences; Biomedicine; blood assay; Child; Child, Preschool; Chromosome Aberrations; Clinical Medicine; Comparative Genomic Hybridization; Enzyme Activation; Facies; Female; Genetic Association Studies; Genetic Predisposition to Disease; Human Genetics; Humans; hypotonia–cystinuria syndrome; Infant; Infant, Newborn; Klinisk medicin; Laboratory Medicine; Male; Medical and Health Sciences; Medicin och hälsovetenskap; neonatal hypotonia; original-research-article; Pediatrics; Pediatrik; Phenotype; Prader–Willi syndrome; PREPL; Prolyl Oligopeptidases; Serine Endopeptidases - deficiency; Serine Endopeptidases - genetics; Serine Endopeptidases - metabolism; Young Adult; PREPL; Prader–Willi syndrome; hypotonia–cystinuria syndrome; neonatal hypotonia; blood assay; neonatal hypotonia; Prader–Willi syndrome; PREPL