Rare inborn errors of metabolism in adults: the lysosomal storage disorders.

نویسنده

  • F Eyskens
چکیده

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Lysosomal storage disorders in the newborn.

Lysosomal storage disorders are rare inborn errors of metabolism, with a combined incidence of 1 in 1500 to 7000 live births. These relatively rare disorders are seldom considered when evaluating a sick newborn. A significant number of the >50 different lysosomal storage disorders, however, do manifest in the neonatal period and should be part of the differential diagnosis of several perinatal ...

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Inborn Errors of Metabolism: Advances in Diagnosis and Therapy.

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The Kidney Involvement In Inborn Errors Of Metabolism

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Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

BACKGROUND Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts and techniques become available for identifying biochemical phenotypes. The aim of this study was to determine the type and distribution of IEMs ...

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Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates

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عنوان ژورنال:
  • Acta clinica Belgica

دوره 64 6  شماره 

صفحات  -

تاریخ انتشار 2009