BACKGROUND Infantile Pompe disease is a rare metabolic disease. Patients generally do not survive the first year of life. Enzyme replacement therapy (ERT) has proven to have substantial effects on survival in infantile Pompe disease. However, the costs of therapy are very high. In this paper, we assess the cost-effectiveness of enzyme replacement therapy in infantile Pompe disease. METHODS A ...

In this paper, the hemoglobin (Hb) re-released from red blood cells (RBCs) and whole blood of 7 carcinoma patients were studied by using electrophoresis release test (ERT), which was established by our lab. Among the 7 carcinoma patients, the re-released Hb was distinctively increased from an intrahepatic bile duct carcinoma patient during one-dimension isotonic ERT. Different from the others, ...

Fabry disease is inherited as an X-linked disorder secondary to deficiency of alpha-galactosidase A, resulting in abnormal metabolism of substances containing alpha-d-galactosyl moieties. As a consequence, a multisystem disorder develops, culminating in strokes, progressive renal, and cardiac dysfunction. Signs and symptoms of Fabry disease become manifest in childhood, but diagnosis is often d...

Mucopolysaccharidosis type I (MPS I) was added to the Recommended Uniform Screening Panel for newborn screening in 2016, highlighting recognition that early treatment of MPS I is critical to stem progressive, irreversible disease manifestations. Enzyme replacement therapy (ERT) is an approved treatment for all MPS I phenotypes, but because the severe form (MPS IH, Hurler syndrome) involves rapi...

Common variants among genes coding for enzymes in sex steroid biosynthetic pathways may influence the risk of endometrial cancer. We examined the association between endometrial cancer risk and estrogen replacement therapy (ERT) by CYP17 genotype using 51 incident cases and 391 randomly selected controls from a multiethnic cohort in Hawaii and Los Angeles, California. The relative risk of endom...

Optical tomography consists of reconstructing the spatial distribution of absorption and scattering properties of a medium from surface measurements of transmitted light intensities. Mathematically, this problem amounts to parameter identification for the equation of radiative transfer (ERT) with diffusion-type boundary measurements. Because they are posed in the phase-space, radiative transfer...

Pompe disease (glycogen storage disease type II) is an autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme acid alpha-glucosidase. Enzyme replacement therapy (ERT) with alglucosidase alfa has resulted in a clinical benefit in a subset of patients. Crossreactive Immunological Material (CRIM)-negative status is associated with poor prognosis. Patients with CRIM-neg...

OBJECTIVE To determine the effect of estrogen replacement therapy (ERT) on the vaginal flora of postmenopausal women. METHODS Vaginal cultures were obtained from 15 postmenopausal women whose hormonal statuses were documented by serum follicle-stimulating hormone (FSH) and serum estrogen levels. After 8 weeks of ERT, consisting of 0.1 mg of estradiol delivered daily by dermal patch, the vagin...

Glycogen storage disease type II (GSDII)/Pompe disease is an autosomal recessive multi-system disorder due to a deficiency of the glycogen-degrading lysosomal enzyme, acid alpha-glucosidase (GAA). Without adequate levels of GAA, there is a progressive accumulation of glycogen inside the lysosome, resulting in lysosomal expansion in many tissues, although the major clinical manifestations are se...

The specific treatment available for Fabry disease (FD) is enzyme replacement therapy (ERT) with agalsidase alfa or beta. A systematic review and meta-analysis was conducted to assess the efficacy and safety of ERT for FD. Only double-blind, randomized clinical trials (RCTs) comparing agalsidase alfa or beta and placebo were included. ERT with either agalsidase alfa or beta was considered simil...