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Chediak-Higashi Syndrome

Known as: Anomaly or syndrome, Chediak-Steinbrinck, BEGUEZ CESAR DISEASE, Granulocyte anomaly or syndrome, Chediak-Steinbrinck-Higashi 
A rare autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport. Chediak-Higashi syndrome (CHS) is… 
National Institutes of Health

Related topics

Related topics

33 relations
AlbinismAleutian Mink DiseaseAnemiaAutosomal recessive inheritance

Broader (3)

Albinism, OculocutaneousPhagocyte Bactericidal DysfunctionSyndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2012
Review
2012
UK Innovation Index: Productivity and Growth in UK Industries
This paper provides an update of the NESTA Innovation Index and tries to calculate some facts for the 'knowledge economy… 
Highly Cited
2006
Highly Cited
2006
Lattice gauge action suppressing near-zero modes of HW
We propose a lattice action including unphysical Wilson fermions with a negative mass m{sub 0} of the order of the inverse… 
Review
1994
Review
1994
Inherited giant platelet disorders
Giant platelet disorders (GPD) refer to rare, usually inherited states characterized by abnormally large platelets… 
Highly Cited
1986
Highly Cited
1986
Lysosomal elastase and cathepsin G in beige mice. Neutrophils of beige (Chediak-Higashi) mice selectively lack lysosomal elastase and cathepsin G
A profound decrease in activities of the two lysosomal serine proteinases, elastase, and cathepsin G, was found in neutrophils of… 
1979
1979
Giant platelet granules in a child with the chediak‐higashi syndrome
Previous ultrastructural investigations have not identified abnormal lysosomes in platelets obtained from humans or animals with… 
Highly Cited
1977
Highly Cited
1977
Improvement of Chediak-Higashi leukocyte function by cyclic guanosine monophosphate.
The addition of cholinergic agents and cyclic 3'5'-guanosine monophosphate (cGMP) to polymorphonuclear leukocytes in vitro from a… 
1976
1976
A platelet abnormality in the Chediak-Higashi syndrome of man.
Platelets from two probands homozygous for the Chediak-Higashi syndrome have approximately 10% of the normal number of serotonin… 
1976
1976
The Chediak-Higashi (beige) mutation in two mouse strains. Allelism and similarity in lysosomal dysfunction.
A mutation called beige, with a phenotype similar to that of the human Chediak-Higashi syndrome, has occurred independently in… 
Highly Cited
1975
Highly Cited
1975
Defective mononuclear leukocyte chemotaxis in the Chediak-Higashi syndrome of humans, mink, and cattle.
Chemotaxis of mononuclear leukocytes from humans, mink, and cattle was evaluated in vitro using a morphologic Boyden chamber… 
Highly Cited
1967
Highly Cited
1967
Neutrophilic function in animals with the Chediak-Higashi syndrome.
Peritoneal exudate neutrophils collected from mink and cattle with and without the Chediak-Higashi syndrome were compared using… 
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