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Articles tagged with Enzyme replacement therapy

  • Rapid intravenous enzyme infusion

    In the latest issue of American Journal of Hematology, we have published results of recent collaborative study on development of enzyme replacement therapies in Gaucher disease type 1. Together with colleagues from University Rostock, Israel and Australia, we tested effects of rapid intravenous…

  • Glycogen storage disease II or Pompe disease

    Pompe disease, also known as glycogen storage disease type 2 (GSD II), is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.

  • Glucosylsphingosine causes hematological and visceral changes in mice

    Glucosylceramide and glucosylsphingosine are the two major storage products in Gaucher disease (GD), an inherited metabolic disorder caused by a deficiency of the lysosomal enzyme glucocerebrosidase. The pathological role of the deacylated form of glucosylceramide, glucosylsphingosine (lyso-Gb1), a…

  • Reductions in glucosylsphingosine

    Gaucher disease (GD), an autosomal recessive lipid storage disorder, arises from mutations in the GBA1 (β-glucocerebrosidase) gene, resulting in glucosylceramide accumulation in tissue macrophages. Lyso-Gb1 (glucosylsphingosine,lyso-GL1), a downstream metabolic product of glucosylceramide, has been…

  • Mucopolysaccharidoses

    Mucopolysaccharidoses are a group of rare inherited metabolic disorders caused by the absence or dysfunction of lysosomal enzymes and subsequent lysosomal storage of glycosaminoglycans. This group of numerous and highly diverse diseases, with a broad range of symptoms and genetic causes, can be…

  • Evidence for inflammation in Fabry’s disease? Headache and muscle involvement responding to corticosteroid and methotrexate treatment

    We report the case of a 38-year-old female patient who had been diagnosed as lupus erythematosus because of generalized muscle and burning pain combined with slightly elevated C-reactive protein (CRP) and antinuclear antibodies (ANA) 1:640. Twelve years later, Fabry’s disease was diagnosed by…

  • Multicenter Female Fabry Study (MFFS)

    The aim of the present study was to assess manifestations of and applied treatment concepts for females with Fabry disease (FD) according to the current European Fabry Guidelines. Between 10/2008 and 12/2014, data from the most recent visit of 261 adult female FD patients from six German Fabry…