ALLMedicine™ Chediak-Higashi Syndrome Center
Research & Reviews 93 results
https://doi.org/10.1080/13554794.2020.1856384
Neurocase Yliranta A, Mäkinen J
Dec 9th, 2020 - Chediak-Higashi syndrome (CHS) is a rare autosomal disorder characterized by immunodeficiency, albinism, and progressive neurologic abnormalities. While survivors of the childhood-onset disease are known to exhibit learning disabilities and neurop...
https://doi.org/10.1097/MPH.0000000000001977
Journal of Pediatric Hematology/oncology; Sachdev M, Bansal M et. al.
Oct 23rd, 2020 - Chediak-Higashi syndrome is a rare immunodeficiency disorder for which hematopoietic stem cell transplant (HSCT) is the only curative treatment option. HSCT only corrects the hematological and immunologic manifestations of the disease but neurolog...
https://doi.org/10.1016/j.pharmthera.2020.107707
Pharmacology & Therapeutics; Tian X, Cui Z et. al.
Oct 19th, 2020 - Melanosomes are specialized membrane-bound organelles that synthesize and organize melanin, ultimately providing color to the skin, hair, and eyes. Disorders in melanogenesis and melanosome transport are linked to pigmentary diseases, such as Herm...
https://clinicaltrials.gov/ct2/show/NCT00005917
Feb 24th, 2020 - Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell function, and often ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6943916
BMC Medical Genetics; Song Y, Dong Z et. al.
Jan 7th, 2020 - Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disease caused by loss of function of the lysosomal trafficking regulator protein. The causative gene LYST/CHS1 was cloned and identified in 1996, which showed significant homology to ot...
Clinicaltrials.gov 93 results
https://doi.org/10.1080/13554794.2020.1856384
Neurocase Yliranta A, Mäkinen J
Dec 9th, 2020 - Chediak-Higashi syndrome (CHS) is a rare autosomal disorder characterized by immunodeficiency, albinism, and progressive neurologic abnormalities. While survivors of the childhood-onset disease are known to exhibit learning disabilities and neurop...
https://doi.org/10.1097/MPH.0000000000001977
Journal of Pediatric Hematology/oncology; Sachdev M, Bansal M et. al.
Oct 23rd, 2020 - Chediak-Higashi syndrome is a rare immunodeficiency disorder for which hematopoietic stem cell transplant (HSCT) is the only curative treatment option. HSCT only corrects the hematological and immunologic manifestations of the disease but neurolog...
https://doi.org/10.1016/j.pharmthera.2020.107707
Pharmacology & Therapeutics; Tian X, Cui Z et. al.
Oct 19th, 2020 - Melanosomes are specialized membrane-bound organelles that synthesize and organize melanin, ultimately providing color to the skin, hair, and eyes. Disorders in melanogenesis and melanosome transport are linked to pigmentary diseases, such as Herm...
https://clinicaltrials.gov/ct2/show/NCT00005917
Feb 24th, 2020 - Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell function, and often ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6943916
BMC Medical Genetics; Song Y, Dong Z et. al.
Jan 7th, 2020 - Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disease caused by loss of function of the lysosomal trafficking regulator protein. The causative gene LYST/CHS1 was cloned and identified in 1996, which showed significant homology to ot...