نتایج جستجو برای: lamy

تعداد نتایج: 314  

Journal: :Archiv der Pharmazie 1863

Journal: :Journal of open source software 2022

Lamy et al., (2022). The 3D Slicer RVXLiverSegmentation plug-in for interactive liver anatomy reconstruction from medical images. Journal of Open Source Software, 7(73), 3920, https://doi.org/10.21105/joss.03920

Journal: :ADLFI. Archéologie de la France - Informations 2014

Journal: :Case Reports in Ophthalmological Medicine 2019

Journal: :Journal of medical genetics 1991
T Tønnesen H N Gregersen F Güttler

A mildly affected Maroteaux-Lamy patient is described. Electrophoretic separation of acid mucopolysaccharides (MPS) in the urine showed an increased excretion of dermatan sulphate in spite of a normal total excretion of MPS.

2004
PASCAL LAMY

The Journal of Common Market Studies, it seems to me, has always rather revelled, in a very British way, in having an out-of-date title. As they used to say, a well-dressed man is always at least ten years behind the latest fashion. Of course, JCMS does not need to worry about that – everyone knows who you are. But you are lucky that you are not called the ‘Journal of Coal and Steel Community S...

Journal: :American journal of medical genetics. Part A 2013
Marion Brands Jorine Roelants Ronald de Krijger Ad Bogers Arnold Reuser Ans van der Ploeg Wim Helbing

Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) is a rare lysosomal storage disorder in which the pathologic storage of glycosaminoglycans in various tissues can lead to severe symptoms, including cardiomyopathy. We report on a child with Maroteaux-Lamy syndrome whose cardiac condition deteriorated and eventually led to cardiac failure at the age of 7 years due to severe mitral regurgit...

Journal: :Revista do Hospital das Clinicas 2000
L M Albano S S Sugayama D R Bertola C E Andrade C Y Utagawa F Puppi H B Nader L Toma J Coelho S Leistner M Burin R Giugliani A K Chong

UNLABELLED The mucopolysaccharidoses (MPS) are a heterogeneous group of inborn errors of lysosomal glycosaminoglycan (GAG) metabolism. The importance of this group of disorders among the inborn errors of metabolism led us to report 19 cases. METHOD We performed clinical, radiological, and biochemical evaluations of the suspected patients, which allowed us to establish a definite diagnosis in ...

Journal: :Circulation 1992
C T Tan H V Schaff F A Miller W D Edwards P S Karnes

BACKGROUND Maroteaux-Lamy syndrome is a lysosomal storage disease of mucopolysaccharide metabolism (MPS type VI) that may involve the mitral and aortic valves. Affected patients have other skeletal and oropharyngeal malformations that complicate anesthetic and surgical management. METHODS AND RESULTS The present report describes the clinical, echocardiographic, and pathological findings in fo...

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