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About 186 results

ALLMedicine™ Chediak-Higashi Syndrome Center

Research & Reviews  93 results

Chediak-Higashi syndrome: neurocognitive and behavioral data from infancy to adulthood ...
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...

Haploidentical Stem Cell Transplant With Post-transplant Cyclophosphamide for Chediak-H...
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...

Melanosome transport and regulation in development and disease.
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...

Study of Chediak-Higashi Syndrome
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 ...

Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higash...
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...

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Clinicaltrials.gov  93 results

Chediak-Higashi syndrome: neurocognitive and behavioral data from infancy to adulthood ...
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...

Haploidentical Stem Cell Transplant With Post-transplant Cyclophosphamide for Chediak-H...
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...

Melanosome transport and regulation in development and disease.
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...

Study of Chediak-Higashi Syndrome
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 ...

Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higash...
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...

see more →