New developments in the treatment and management of phenylketonuria (PKU) as well as
advances in molecular testing have emerged since the National Institutes of Health 2000 …

Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder
caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are …

Primary hyperparathyroidism is a common condition that affects 0.3% of the general
population. Primary and tertiary care specialists can encounter patients with primary …

Background Whole-exome sequencing has transformed gene discovery and diagnosis in
rare diseases. Translation into disease-modifying treatments is challenging, particularly for …

Type 1 Gaucher’s disease (GD) is recognized for striking but unexplained phenotypic diversity.
Rarely, severe pulmonary hypertension (PH) may occur in GD but its clinical spectrum, …

BACKGROUND: Fabry disease is characterized by accumulation of glycosphingolipids,
such as globotriaosylceramide (Gb 3 ), in many tissues and body fluids. A novel plasma …

Background Two recombinant enzymes (agalsidase alfa 0.2 mg/kg/every other week and
agalsidase beta 1.0 mg/kg/every other week) have been registered for the treatment of Fabry …

Pompe disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid
alpha-glucosidase. Patients have skeletal muscle and respiratory weakness with or without …

Purpose To describe what, if any, specific long T 2 ‐related abnormalities occur in the white
matter of subjects with either phenylketonuria (PKU) or multiple sclerosis (MS). Materials and …

Background and objectives: Fabry disease is a progressive X-linked disorder of glycosphingolipid
metabolism that typically presents in childhood and progresses to heart failure and …