Abstract：
:The Maroteaux-Lamy disease, or mucopolysaccharidosis type VI is an inherited metabolic disorder severe and rare. It is caused by a deficiency of the enzyme arylsulfatase B. It is characterized by a heterogeneous clinical, radiological and genetic. We report the case of a Maroteaux-Lamy syndrome of in a child aged 7 years whose diagnosis was suspected clinically by the combination of a dysmorphic syndrome, a failure to thrive not harmonious, hepatomegaly and normal intelligence. Radiological exams have objectified dysostosis multiplex. Biochemical analysis of urine showed the abnormal presence of dermatan sulfate. The determination of leukocyte enzyme activity confirmed the diagnosis by showing arylsulfatase B deficiency. Hence the diagnosis of syndrome Maroteaux-Lamy in its mild form (type B) was selected.
journal_name
Ann Biol Clin (Paris)journal_title
Annales de biologie cliniqueauthors
Mtar A,Charfeddine B,Braham I,Ben Abdallah J,Neffati S,Smach MA,Bourfifa Z,Ksouri M,Dridi H,Limem Kdoi
10.1684/abc.2011.0627subject
Has Abstractpub_date
2011-11-01 00:00:00pages
693-7issue
6eissn
0003-3898issn
1950-6112pii
abc.2011.0627journal_volume
69pub_type
杂志文章abstract：:The 2007 international consensus about the standardization of HbA(1c) determination and expression of results is progressively implemented in most countries. In France, a common working group of the Société française de biologie clinique (SFBC) and the Société francophone de diabétologie (SFD) has expressed the follow...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2009.0391
更新日期：2009-11-01 00:00:00
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journal_title：Annales de biologie clinique
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journal_title：Annales de biologie clinique
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doi：
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journal_title：Annales de biologie clinique
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journal_title：Annales de biologie clinique
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journal_title：Annales de biologie clinique
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journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1990-01-01 00:00:00
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journal_title：Annales de biologie clinique
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更新日期：1981-01-01 00:00:00
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journal_title：Annales de biologie clinique
pub_type： 杂志文章
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更新日期：2017-10-01 00:00:00
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journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1990-01-01 00:00:00
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journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1988-01-01 00:00:00
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journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1998-05-01 00:00:00
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journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1994-01-01 00:00:00
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journal_title：Annales de biologie clinique
pub_type： 杂志文章
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更新日期：2012-01-01 00:00:00
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journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1981-01-01 00:00:00
abstract：:Hormonal production of the thyroid gland is constituted of thyroxine or T4 (80%) and triiodothyronine or T3 (20%). In the circulation, whole T4 originates from thyroid secretion but most of T3 (80%) is produced extrathyroidally from T4 deiodination. Conversion of T4 to T3 may be influenced by various conditions and ci...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：2003-07-01 00:00:00
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journal_title：Annales de biologie clinique
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doi：10.1684/abc.2015.1066
更新日期：2015-07-01 00:00:00
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journal_title：Annales de biologie clinique
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journal_title：Annales de biologie clinique
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journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1993-01-01 00:00:00
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journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
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journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：2000-03-01 00:00:00
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journal_title：Annales de biologie clinique
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更新日期：2005-09-01 00:00:00
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journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：10.1684/abc.2012.0706
更新日期：2012-05-01 00:00:00
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journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1992-01-01 00:00:00
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journal_title：Annales de biologie clinique
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doi：
更新日期：2004-05-01 00:00:00
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journal_title：Annales de biologie clinique
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更新日期：1998-07-01 00:00:00
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journal_title：Annales de biologie clinique
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更新日期：2005-05-01 00:00:00
