کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
4172839 | 1275781 | 2011 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Galactosaemia an update
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
While galactosaemia was originally documented over 100 hundred years ago, it still remains poorly understood and recognized. Classical galactosaemia is an inherited disorder of galactose metabolism, whose main dietary source is lactose. In the UK which does not currently screen for Galactosaemia lack of recognition of key symptoms can lead to delays in diagnosis. However it has become clearer that Galactosaemia is not only an acute disease of the neonatal period but affected children potential are prone to a number of chronic problems later in life. This review looks at the current thinking concerning the pathogenesis and complications of galactosaemia and summaries our current management of patients.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Paediatrics and Child Health - Volume 21, Issue 2, February 2011, Pages 65–70
Journal: Paediatrics and Child Health - Volume 21, Issue 2, February 2011, Pages 65–70
نویسندگان
A.A. Broomfield, C. Brain, S. Grunewald,