Comorbid Cardiovascular Malformation and Type II Mucolipidosis: Clinical Case

Comorbid Cardiovascular Malformation and Type II Mucolipidosis: Clinical Case

Background. Type II mucolipidosis (I-cell disease, ICD) is one of the lysosomal storage diseases. It is very rare disease; the literature describes only few cases with confirmed diagnosis of mucolipidosis. Cardiovascular changes in children with such pathology are even less often. Clinical case desc...

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Bibliographic Details
Main Authors: Nina V. Fedorova, Natalia V. Zhurkova, Nato D. Vashakmadze, Marina A. Babaykina, Grigory V. Revunenkov, Kirill V. Savostyanov, Olga B. Gordeeva, Leyla S. Namazova-Baranova
Format: Article
Language:English
Published: Paediatrician Publishers, LLC 2020-11-01
Series:Pediatričeskaâ Farmakologiâ
Subjects:
type ii mucolipidosis
lysosomal storage disease
gene gnptab
i-cell disease
neonatal hyperparathyroidism
abdominal aortic hypoplasia
Online Access:https://www.pedpharma.ru/jour/article/view/1907

Internet

https://www.pedpharma.ru/jour/article/view/1907

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