Background and Purpose— Strokes have especially devastating implications if they occur
early in life; however, only limited information exists on the characteristics of acute …

ABSTRACT. Anderson-Fabry disease is possibly underdiagnosed in patients with end-stage
renal disease. Nationwide screening was therefore undertaken for Anderson-Fabry disease …

Patients with pyridoxine dependent epilepsy (PDE) present with early‐onset seizures
resistant to common anticonvulsants. According to the benefit of pyridoxine (vitamin B 6 ) and …

Mucopolysaccharidosis type II (Hunter disease, iduronate-2-sulfatase deficiency) was
diagnosed in a 4-year-old female by demonstrating low iduronate-2-sulfatase activity both in …

The aim of this study was to test plasma lipoprotein Lp(a) and other lipid and lipoprotein
levels for association with the incidence of myocardial infarction. Total plasma cholesterol, …

Objective: To determine whether patients with pyridoxine-responsive seizures but normal
biomarkers for antiquitin deficiency and normal sequencing of the ALDH7A1 gene may have …

Skin fibroblasts from two patients who had symptoms of the Sanfilippo syndrome (mucopolysaccharidosis
III) accumulated excessive amounts of heparan sulfate and were unable to …

GM1 gangliosidosis is due to β‐galactosidase deficiency. Only patients with type 3 disease
survive into adulthood and develop movement disorders. Clinical descriptions of this form …

Diagnosis of pyridoxine‐dependent epilepsy is based on the clinical response to high‐dosage
application of pyridoxine. Here, we report on 2 patients with pyridoxine‐dependent …

Pompe disease is an autosomal recessive lysosomal glycogen storage disorder, characterized
by progressive muscle weakness. Deficiency of acid α‐glucosidase (EC; 3.2.1.20/3) can …