Last Updated: September 10, 2024 Introduction to D-Bifunctional Protein Deficiency D-bifunctional protein deficiency (DBPD) is an autosomal recessive disorder that is a member of a family of disorders that result from defects in the biogenesis and/or functioning of...
Last Updated: September 15, 2022 Introduction to Infantile Refsum Disease Infantile Refsum disease (IRD) is an autosomal recessive disorder that is a member of a family of disorders that result from defects in the biogenesis and/or functioning of the peroxisomes and...
Last Updated: September 15, 2022 Introduction to RCDP Rhizomelic chondrodysplasia punctata (RCDP) represents a family of disorders resulting from mutations in genes encoding functions associated with the biogenesis of peroxisomes or the metabolic processes of the...
Last Updated: September 15, 2022 Introduction to Neonatal Adrenoleukodystrophy, NALD Neonatal adrenoleukodystrophy (NALD) is an autosomal recessive disorder that is a member of a family of disorders that result from defects in the biogenesis and/or functioning of the...
Last Updated: September 15, 2022 Introduction to X-Linked Adrenoleukodystrophy X-linked adrenoleukodystrophy (X-ALD) is an X-linked recessive disorder that is a member of a family of disorders that result from defects in the biogenesis and/or functioning of the...
Last Updated: September 15, 2022 Introduction to Zellweger Syndrome Zellweger syndrome (ZWS) is a disorder that is a member of a family of disorders that result from defects in the biogenesis and/or functioning of the peroxisomes and are referred to as peroxisome...
Last Updated: September 15, 2022 Introduction to Refsum Disease Refsum disease (heredopathia atactica polyneuritiformis) is an autosomal recessive disorder named for Sigvald Refsum who, in 1945, initially characterized the cardinal clinical features of this disease...