Classical galactosemia

Known as: Classic Galactosemias, Epimerase Deficiency Galactosemias, Galactose 1 Phosphate Uridyl Transferase Deficiency Disease 
An inherited metabolic disorder characterized by increased levels of galactose in the blood. Clinical signs include failure to thrive, developmental… (More)
National Institutes of Health

Papers overview

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Highly Cited
2017
Highly Cited
2017
BACKGROUND As mortality rates decline, life expectancy increases, and populations age, non-fatal outcomes of diseases and… (More)
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2009
2009
OBJECTIVES To determine the long-term outcome of dietary intervention in siblings from 14 Irish families with classical… (More)
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Highly Cited
2007
Highly Cited
2007
Human interleukin (IL) 1 receptor-associated kinase 4 (IRAK-4) deficiency is a recently discovered primary immunodeficiency that… (More)
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Highly Cited
2005
Highly Cited
2005
Antidepressants increase proliferation of neuronal progenitor cells and expression of brain-derived neurotrophic factor (BDNF) in… (More)
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Highly Cited
2004
Highly Cited
2004
BACKGROUND Pulmonary surfactant forms a lipid-rich monolayer that coats the airways of the lung and is essential for proper… (More)
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Highly Cited
2004
Highly Cited
2004
Congenital nephrotic syndrome (CNS) is clinically and genetically heterogeneous, with mutations in WT1, NPHS1 and NPHS2… (More)
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Highly Cited
2004
Highly Cited
2004
OBJECTIVE Classical galactosemia (McKusick 230400) is an autosomal recessive disorder of galactose metabolism caused by a… (More)
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Review
1999
Review
1999
Classical galactosemia is caused by a deficiency in activity of the enzyme galactose-1-phosphate uridyl transferase (GALT), which… (More)
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Highly Cited
1998
Highly Cited
1998
The complement system plays a paradoxical role in the development and expression of autoimmunity in humans. The activation of… (More)
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Highly Cited
1988
Highly Cited
1988
A "newly detected" variant of methylenetetrahydrofolate (MTHF) reductase (E.C.1.1.1.68) deficiency associated with an 8-15-fold… (More)
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