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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… Expand
National Institutes of Health

Papers overview

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Review
2019
Review
2019
Poly (ADP-ribose) polymerases (PARPs) play an important role in various cellular processes, such as replication, recombination… Expand
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Highly Cited
2017
Highly Cited
2017
As mortality rates decline, life expectancy increases, and populations age, non-fatal outcomes of diseases and injuries are… Expand
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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… Expand
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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… Expand
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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… Expand
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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… Expand
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Highly Cited
2002
Highly Cited
2002
Due to interhuman differences in the perception of color, visual shade assessment of human teeth is lacking standardization that… Expand
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Highly Cited
2000
Highly Cited
2000
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders. CAH is most often caused by deficiency of… Expand
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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… Expand
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Highly Cited
1983
Highly Cited
1983
Hormonal reference data, in the form of nomograms relating baseline and stimulated levels of adrenal hormones, provide a means of… Expand
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