Laboratory studies and Pompe disease: from suspicion to therapy monitoring

Pompe disease (PD) is a rare, progressive, commonly fatal inherited autosomal recessive disease that is difficult to diagnose due to its obvious clinical heterogeneity and low awareness among physicians. Access to the laboratory diagnosis of rare diseases increases every year. In the past several ye...

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Main Authors: K. V. Savost’yanov, S. S. Nikitin, K. E. Karpacheva
Formato: Artigo
Idioma:Russo
Publicado: ABV-press 2016-03-01
Series:Nervno-Myšečnye Bolezni
Assuntos:
pompe disease
limb-girdle muscular dystrophy
gaa gene
rare diseases laboratory diagnosis
glycogenesis type ii
lysosomal storage diseases
next generation sequencing
creatine kinase
dry blood spot
cross-reactive immunological material
anti-α-glucosidase antibodies
orphan diseases
Acceso en liña:https://nmb.abvpress.ru/jour/article/view/138
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