Abstract：
:Hunter syndrome or mucopolysaccharidosis II (MPS II) is a rare X-linked disease caused by a deficiency of the iduronate-2-sulphatase (12S) lysosomal enzyme, resulting in a progressive accumulation of glycosaminoglycans (GAGs). Enzyme replacement therapy (ERT) with recombinant human 12S idursulfase has been used infrequently in children < 5 years. We present the case of a 7 years and 10 months-old child, who was diagnosed with a severe form of MPS II at the age of 3 years, and who began a 36 months' treatment with idursulfase at 4 years 10 months. After 10 months, GAG urinary excretion was normal, but after just 4 months the liver and spleen had decreased in size, returning to normal limits by 36 months. Significant bone remodeling was noted after 16 months. Cardiac and neurological development, however, progressively deteriorated. The only adverse reactions were episodic inflammations of the upper and/or lower respiratory tract, but there was no otitis. Early use of ERT, presuming good treatment adherence, can significantly improve bone abnormalities.
journal_name
Eur Rev Med Pharmacol Scijournal_title
European review for medical and pharmacological sciencesauthors
Papadia F,Lozupone MS,Gaeta A,Capodiferro D,Lacalendola Gsubject
Has Abstractpub_date
2011-03-01 00:00:00pages
253-8issue
3eissn
1128-3602issn
2284-0729journal_volume
15pub_type
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journal_title：European review for medical and pharmacological sciences
pub_type： 杂志文章,评审
doi：
更新日期：2004-07-01 00:00:00
abstract：OBJECTIVE:Perlecan, which is also called heparan sulfate proteoglycan 2 (HSPG2), is a protein encoded by the HSPG2 gene that maps to 1p36.12 in the human genome. In this study, we assessed the independent prognostic value of HSPG2 in terms of overall survival (OS) and recurrence-free survival (RFS) in patients with LGG...
journal_title：European review for medical and pharmacological sciences
pub_type： 杂志文章
doi：10.26355/eurrev_201810_16154
更新日期：2018-10-01 00:00:00
abstract：OBJECTIVE:The RIB43A domain with coiled-coils 2 (RIBC2) encodes an uncharacterized vertebrate protein exhibiting similarity with Chlamydomonas protofilament ribbon proteins, required for ciliary motility. To date, no functional variants capable of triggering a change in the expression of RIBC2 have been reported. PATI...
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doi：10.26355/eurrev_202004_20851
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abstract：OBJECTIVE:To investigate the correlations of the computed tomography (CT) signs of non-small cell lung cancer (NSCLC) with pathological features and the expression levels of phosphoprotein 53 (p53) and c-Myc in patients. PATIENTS AND METHODS:87 patients with NSCLC admitted to the Department of Oncology in our hospital...
journal_title：European review for medical and pharmacological sciences
pub_type： 杂志文章
doi：10.26355/eurrev_201801_14110
更新日期：2018-01-01 00:00:00
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journal_title：European review for medical and pharmacological sciences
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更新日期：2014-01-01 00:00:00
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journal_title：European review for medical and pharmacological sciences
pub_type： 杂志文章
doi：
更新日期：2017-06-01 00:00:00
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journal_title：European review for medical and pharmacological sciences
pub_type： 杂志文章
doi：
更新日期：2013-06-01 00:00:00
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journal_title：European review for medical and pharmacological sciences
pub_type： 杂志文章
doi：10.26355/eurrev_202005_21341
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journal_title：European review for medical and pharmacological sciences
pub_type： 杂志文章
doi：
更新日期：2015-05-01 00:00:00
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journal_title：European review for medical and pharmacological sciences
pub_type： 杂志文章,多中心研究
doi：
更新日期：2007-03-01 00:00:00
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journal_title：European review for medical and pharmacological sciences
pub_type： 杂志文章
doi：
更新日期：2012-07-01 00:00:00
abstract：OBJECTIVES:Cardiovascular changes during laparoscopic surgery have been described in several studies. Pneumoperitoneum effects on cardiac performance instead have not been much investigated and are less known. The carbon dioxide insufflation necessary in order to perform laparoscopic procedures represents a higher forc...
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pub_type： 杂志文章
doi：
更新日期：2014-08-01 00:00:00
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journal_title：European review for medical and pharmacological sciences
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doi：10.26355/eurrev_202010_23253
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journal_title：European review for medical and pharmacological sciences
pub_type： 杂志文章
doi：
更新日期：2004-11-01 00:00:00
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journal_title：European review for medical and pharmacological sciences
pub_type： 临床试验,杂志文章
doi：
更新日期：2003-03-01 00:00:00
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journal_title：European review for medical and pharmacological sciences
pub_type： 杂志文章,随机对照试验
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更新日期：2018-10-01 00:00:00
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journal_title：European review for medical and pharmacological sciences
pub_type： 杂志文章
doi：
更新日期：2014-01-01 00:00:00
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journal_title：European review for medical and pharmacological sciences
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journal_title：European review for medical and pharmacological sciences
pub_type： 杂志文章,评审
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更新日期：2019-09-01 00:00:00
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journal_title：European review for medical and pharmacological sciences
pub_type： 杂志文章
doi：
更新日期：2015-07-01 00:00:00
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journal_title：European review for medical and pharmacological sciences
pub_type： 杂志文章
doi：
更新日期：2016-12-01 00:00:00
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journal_title：European review for medical and pharmacological sciences
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doi：10.26355/eurrev_202007_21852
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journal_title：European review for medical and pharmacological sciences
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更新日期：2020-08-01 00:00:00
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journal_title：European review for medical and pharmacological sciences
pub_type： 杂志文章,随机对照试验
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更新日期：2017-03-01 00:00:00
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journal_title：European review for medical and pharmacological sciences
pub_type： 杂志文章
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更新日期：2017-05-01 00:00:00
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journal_title：European review for medical and pharmacological sciences
pub_type： 杂志文章,评审
doi：
更新日期：2014-10-01 00:00:00
