Zobrazeno 1 - 10
of 482
pro vyhledávání: '"I-cell disease"'
Autor:
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
Publikováno v:
Педиатрическая фармакология, Vol 17, Iss 5, Pp 459-466 (2020)
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
Externí odkaz:
https://doaj.org/article/0084474a21794998a5bad3ea320fbcff
Autor:
Luise Sophie Ammer, Sandra Pohl, Sandra Rafaela Breyer, Charlotte Aries, Jonas Denecke, Anna Perez, Martin Petzoldt, Johanna Schrum, Ingo Müller, Nicole Maria Muschol
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100704- (2021)
Background: Mucolipidosis type II (MLII) is an ultra-rare lysosomal storage disorder caused by defective lysosomal enzyme trafficking. Clinical hallmarks are craniofacial dysmorphia, cardiorespiratory dysfunction, hepatosplenomegaly, skeletal deformi
Externí odkaz:
https://doaj.org/article/ce287ca7fa4049499872f5be59d54ffc
Akademický článek
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Publikováno v:
Hong Kong Journal of Radiology. 23:39-43
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5de511b0a1f54d1e6f5ecd74732d22ed
https://doi.org/10.12809/hkjr2017142
https://doi.org/10.12809/hkjr2017142
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 32:1399-1402
Background Mucolipidosis II α/β (ML II) is an autosomal recessive disease associated with the abnormality of lysosomal enzyme trafficking. Case presentation We present an unusual patient with: (a) marked skeletal anomalies with secondary hyperparat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c759d88b4cfb05617a0e29c76002cdd0
https://doi.org/10.1515/jpem-2019-0162
https://doi.org/10.1515/jpem-2019-0162
Autor:
Sarah J. Beaudoin, Uzoamaka C. Ezeanya, Christiana N. Oji-Mmuo, Kristen Glass, Rebecca R. Speer
Publikováno v:
J Pediatr Genet
Mucolipidosis II α/beta (MLII) is an autosomal recessive disease in which a gene mutation leads to improper targeting of lysosomal enzymes with an end result of accumulation of lysosomes in the mitochondria resulting in a dysfunctional mitochondria.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7039bab512c830a5719d43bd8648ca1
https://doi.org/10.1055/s-0039-1700519
https://doi.org/10.1055/s-0039-1700519
Publikováno v:
Turkish Journal of Biology
Mucolipidosis type II (ML-II, I-cell disease) is a fatal inherited lysosomal storage disease caused by a deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase. A characteristic skeletal phenotype is one of the many clinical manifestations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77ad92ffacaf22d832ac7d54e53894e0
https://doi.org/10.3906/biy-1902-20
https://doi.org/10.3906/biy-1902-20
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1981 Dec 01. 78(12), 7773-7777.
Externí odkaz:
https://www.jstor.org/stable/11286
Autor:
Vladutiu, Georgirene D.
Publikováno v:
In Vitro, 1981 Jul 01. 17(7), 588-592.
Externí odkaz:
https://www.jstor.org/stable/4292545