Recruiting Neonatal Screening of Biotinidase Deficiency: Genotype-phenotype Correlation and Clinical Follow-up NCT06723925 Conditions Amino Acid Metabolism, Inborn Errors, Biotinidase Deficiency, Carbohydrate Metabolism, Inborn Errors, +6 more Locations IRCCS Azienda Ospedaliero-Universitaria di Bologna — Bologna, Italy View Trial Details
Completed Baby Detect : Genomic Newborn Screening NCT05687474 Conditions 3-Hydroxy 3-Methyl Glutaric Aciduria, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency, +368 more Locations CRMN, Hôpital La Citadelle — Liège, Wallonia, Belgium View Trial Details
Completed Study of ORL-1B in Patients With Biotinidase Deficiency NCT03269045 Conditions Amino Acid Metabolism, Inborn Errors, Biotinidase Deficiency, Carbohydrate Metabolism, Inborn Errors, +6 more Locations Not specified View Trial Details
Active, Not Recruiting Early Check: Expanded Screening in Newborns NCT03655223 Conditions 17 Alpha-Hydroxylase Deficiency, 3-Hydroxy-3-Methylglutaric Aciduria, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, +456 more Locations RTI International — Research Triangle Park, North Carolina, United States View Trial Details
