Дыхательные нарушения при болезни Помпе с поздним началом

Θεματικοί όροι: дыхательные нарушения, ферментозаместительная терапия, лизосомная болезнь накопления, respiratory disorders, spirometry, спирометрия, полисомнография, noninvasive ventilation, late-onset Pompe disease, болезнь Помпе с поздним началом, lysosomal storage disease, polysomnography, restrictive respiratory failure, неинвазивная вентиляция легких, рестриктивная дыхательная недостаточность, enzyme replacement therapy

Clinical Characteristics of a Patient with Mucopolysaccharidosis Type IVA (Morquio Syndrome) ; Клиническая характеристика пациента с мукополисахаридозом, тип IVА (синдромом Моркио)

Συγγραφείς: Nato D. Vashakmadze, Natalia V. Zhurkova, Ludmila K. Mikhaylova, Volha Ya. Smirnova, Grigorii V. Revunenkov, Н. Д. Вашакмадзе, Н. В. Журкова, Л. К. Михайлова, О. Я. Смирнова, Г. В. Ревуненков

Συνεισφορές: Not specified, Источник финансирования отсутствует

Πηγή: Current Pediatrics; Том 21, № 6S (2022); 529-534 ; Вопросы современной педиатрии; Том 21, № 6S (2022); 529-534 ; 1682-5535 ; 1682-5527

Θεματικοί όροι: короткая шея, Morquio syndrome, enzyme replacement therapy, lysosomal storage disease, glycosaminoglycans, keratan sulfate, N-acetylglucosamine-6-sulfate sulfatase, corneal opacity, short neck, синдром Моркио, ферментозаместительная терапия, лизосомная болезнь накопления, гликозаминогликаны, кератансульфат, N-ацетилглюкозамин-6-сульфатная сульфатаза, помутнение роговицы

Περιγραφή αρχείου: application/pdf

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Διαθεσιμότητα: https://vsp.spr-journal.ru/jour/article/view/3080
https://doi.org/10.15690/vsp.v21i6S.2499