Results Both patients exhibited hypercalciuria, hypercalcemia, low parathyroid hormone,
elevated vitamin D (1α, 25 (OH) 2 D 3), normal 25-OHD 3, decreased 24, 25 (OH) 2 D, and …

Lysosomes are membrane-bound acidic organelles that contain hydrolases used for intracellular
digestion of various macromolecules in a process generally referred to as autophagy. …

Results Patients were ages 0.6–36 years old (mean of 9.0±7.6 years old); 41 were female.
Mutations were identified in 19 genes in 92 patients; two thirds of the mutations resided in six …

… Dr Malicdan is a neurologist and a scientist whose main interest is the study of rare diseases.
She performs basic and translational research on rare diseases in the National Institutes of …

GNE myopathy is a rare, autosomal recessive, inborn error of sialic acid metabolism,
caused by mutations in GNE, the gene encoding UDP-N-acetyl-glucosamine-2-epimerase/N-…

Aminoacyl-tRNA synthetases (ARSs) are essential enzymes responsible for charging tRNA
molecules with cognate amino acids. Consistent with the essential function and ubiquitous …

Smith–Magenis syndrome (SMS), a neurodevelopmental disorder characterized by
dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a 17p11.2 …

Introduction: GNE myopathy is an adult‐onset muscle disorder characterized by impaired
sialylation of (muscle) glycans, detectable by lectin histochemistry. We describe a standardized …

Congenital muscular dystrophies with collagen VI deficiency are inherited muscle disorders
with a broad spectrum of clinical presentation and are caused by mutations in one of …

Ullrich congenital muscular dystrophy (UCMD) is an inherited muscle disorder characterized
clinically by muscle weakness, distal joint hyperlaxity, and proximal joint contractures. …