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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ABV-press
2016-03-01
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| Series: | Nervno-Myšečnye Bolezni |
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| Online Access: | https://nmb.abvpress.ru/jour/article/view/138 |
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Article |
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doaj-4620dd8cb8204649bdd61accdbaf88812021-07-29T08:13:28ZrusABV-pressNervno-Myšečnye Bolezni2222-87212413-04432016-03-0161546210.17650/2222-8721-2016-6-1-54-62128Laboratory studies and Pompe disease: from suspicion to therapy monitoringK. V. Savost’yanov0S. S. Nikitin1K. E. Karpacheva2Laboratory of Molecular Genetics and Cell Biology Scientific Center of Children’s Health; Build 1, 2 Lomonosovskiy prospekt, Moscow, 119991, RussiaSociety of Experts in Neuromuscular Diseases, Medical Center “Practical Neurology”; Build. 2, 17 Krzhizhanovskogo St., Моscow, 117218, RussiaRepresentative Office, Sanofi Aventis Group; 22 Tverskaya St., Moscow, 125009, Russia;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 years, Russian and foreign laboratories have achieved considerable success in accelerating and improving the diagnostic accuracy of PD. Unfortunately, the Russian-language literature contains scarce relevant information on the laboratory diagnosis of PD. This review is to fill up this gap.https://nmb.abvpress.ru/jour/article/view/138pompe diseaselimb-girdle muscular dystrophygaa generare diseases laboratory diagnosisglycogenesis type iilysosomal storage diseasesnext generation sequencingcreatine kinasedry blood spotcross-reactive immunological materialanti-α-glucosidase antibodiesorphan diseases |
| collection |
DOAJ |
| language |
Russian |
| format |
Article |
| sources |
DOAJ |
| author |
K. V. Savost’yanov S. S. Nikitin K. E. Karpacheva |
| spellingShingle |
K. V. Savost’yanov S. S. Nikitin K. E. Karpacheva Laboratory studies and Pompe disease: from suspicion to therapy monitoring Nervno-Myšečnye Bolezni 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 |
| author_facet |
K. V. Savost’yanov S. S. Nikitin K. E. Karpacheva |
| author_sort |
K. V. Savost’yanov |
| title |
Laboratory studies and Pompe disease: from suspicion to therapy monitoring |
| title_short |
Laboratory studies and Pompe disease: from suspicion to therapy monitoring |
| title_full |
Laboratory studies and Pompe disease: from suspicion to therapy monitoring |
| title_fullStr |
Laboratory studies and Pompe disease: from suspicion to therapy monitoring |
| title_full_unstemmed |
Laboratory studies and Pompe disease: from suspicion to therapy monitoring |
| title_sort |
laboratory studies and pompe disease: from suspicion to therapy monitoring |
| publisher |
ABV-press |
| series |
Nervno-Myšečnye Bolezni |
| issn |
2222-8721 2413-0443 |
| publishDate |
2016-03-01 |
| description |
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 years, Russian and foreign laboratories have achieved considerable success in accelerating and improving the diagnostic accuracy of PD. Unfortunately, the Russian-language literature contains scarce relevant information on the laboratory diagnosis of PD. This review is to fill up this gap. |
| topic |
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 |
| url |
https://nmb.abvpress.ru/jour/article/view/138 |
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AT kvsavostyanov laboratorystudiesandpompediseasefromsuspiciontotherapymonitoring AT ssnikitin laboratorystudiesandpompediseasefromsuspiciontotherapymonitoring AT kekarpacheva laboratorystudiesandpompediseasefromsuspiciontotherapymonitoring |
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1721256897450868736 |