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Modern Approach to Fabry Disease Diagnosis and Management in Children

Fabry disease (FD), or Andersen-Fabry disease, is a rare hereditary lysosomal disease (sphingolipids storage disease) characterized by progressive multisystem involvement. The major symptoms among children are neuropathic pain / acroparesthesia, angiokeratomas, hypo- or anhidrosis, vortex keratopath...

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Kaydedildi:
Asıl Yazarlar: Olga Ya. Smirnova, Nato D. Vashakmadze, Maria S. Karaseva, Natalia V. Zhurkova, Anna Yu. Rachkova, Leyla S. Namazova-Baranova
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: "Paediatrician" Publishers LLC 2024-02-01
Seri Bilgileri:Вопросы современной педиатрии
Konular:
fabry disease
gla gene
α-galactosidase а
lyso-gb3
childhood
neuropathic pain
acroparesthesia
angiokeratoma
hyphidrosis
vortex keratopathy
agalsidase alpha
agalsidase beta
Online Erişim:https://vsp.spr-journal.ru/jour/article/view/3394
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