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Johannes, German dermatologist, 1860-1930. See: Fabry disease.
References in periodicals archive ?
Coming into Hermes with Fabry, a longtime friend she hadn't worked with before their joint hiring, Macaux Perelman says they were clear 'that we're not here to make a big change about anything.
Classical ophthalmologic signs are cornea verticillata and Fabry cataract.
Galafold is now reimbursed in Italy as a therapy for long-term treatment of adults and adolescents aged 16 years and older with a confirmed diagnosis of Fabry disease (alpha-galactosidase A deficiency) and who have an amenable mutation, added the company.
Fabry thanked families and friends for their support throughout her tour as NSCS commanding officer.
One of the most significant aspects of this platform is that we built it to optimise sound quality for both music and for speech, which are both critical hearing environments," Fabry said.
One of the main drivers for the Fabry disease market growth will be an increase in the number of newly diagnosed cases of Fabry disease, and consequently in the number of treatable Fabry patients, as a result of increasing awareness of Fabry disease among physicians.
Clinical features of and recent advances in therapy for Fabry disease.
The report provides a snapshot of the global therapeutic landscape of Fabry Disease
The 6-plex is for Fabry, Gaucher, Krabbe, MPS-I, Niemann-Pick-A/B, and Pompe diseases, in which a single 3-mm DBS punch is incubated with a mixture of 6 substrates and internal standards in a single buffer.
The organization writes that Fabry patients are losing because of potential collusion between the parties.
La enfermedad de Fabry es un trastorno del almacenamiento lisosomico recesivo ligado al cromosoma X que es causado por la actividad ausente o deficiente de la alfa-galactosidasa A (alfa-Gal A, tambien denominada ceramida trihexosidasa) y la acumulacion resultante de globotriaosilceramida (Gb-3, tambien denominada ceramida trihexosida) y otros glicoesfingolipidos en diferentes tejidos, produciendo inclusiones citoplasmaticas en endotelio vascular, cerebro, epitelio renal y musculo cardiaco, de ahi sus diferentes manifestaciones sistemicas (1).
1 Fabry's disease is also known as Anderson Fabry's disease, Angiokeratoma Corporis diffusum universal and Morbus Fabry.