نتایج جستجو برای: inborn errors of metabolism

تعداد نتایج: 21191850  

Journal: :Molecular Cytogenetics 2014

Journal: :Pediatric Clinics of North America 2018

Journal: :Seminars in Liver Disease 2007

Journal: :Acta Scientific Paediatrics 2019

Journal: :British Journal of Nutrition 1950

Journal: :Developmental Medicine & Child Neurology 2012

Journal: :Journal of Human Genetics 2019

Journal: :The Yale Journal of Biology and Medicine 1964
Susan Goldhor

Dr. Van Liere's earlier book on this subject* was probably the first detailed study of the biology of low oxygen pressure. Investigations of the effect of high altitude, using mountain climbing or balloon ascent as a tool, go back to the late eighteenth century, but the major impetus seems to have been the need for military aviation in World War I. This interest was maintained until about 1935 ...

Journal: :British medical bulletin 1999
M Worwood

The iron content of the body is normally closely regulated. Despite this, iron deficiency anaemia is common in women because iron losses due to menstruation and childbirth are not always compensated for by iron absorption from the diet. The role of transferrin in delivering iron to cells and of ferritin in storing iron within cells is well understood but the proteins involved in iron transport ...

Journal: :Pediatric neurology 2011
Can Ficicioglu David Bearden

Neonatal seizures are common, and often comprise the first clinical indicator of central nervous system dysfunction. Although most neonatal seizures are secondary to processes such as hypoxic-ischemic injury, infection, or cortical malformations (which are readily identifiable through routine testing and imaging), seizures secondary to inborn errors of metabolism can be much more difficult to d...

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