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Current Opinion in Hematology|May 31, 2023
Chediak-Higashi syndromeMackenzie L Talbert, May Christine V Malicdan, Wendy J Introne
Muscle & Nerve|July 19, 2016
Peripheral nervous system manifestations of Chediak-Higashi diseaseTanya J Lehky, Catherine Groden, Barbara Lear, et al.
Molecular Genetics and Metabolism|October 3, 2002
Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantationWendy J Introne, Chanika Phornphutkul, Isa Bernardini, et al.
Platelets|May 22, 2020
Genetic variants associated with Hermansky-Pudlak syndromeMelissa A Merideth, Wendy J Introne, Jennifer A Wang, et al.
Drug Discovery Today. Disease Models|January 11, 2021
Chediak-Higashi syndrome: a review of the past, present, and futurePrashant Sharma, Elena-Raluca Nicoli, Jenny Serra-Vinardell, et al.
Medrxiv : the Preprint Server for Health Sciences|September 19, 2025
Diffusion tensor imaging in Chediak Higashi DiseaseConnor J Lewis, Selby I Chipman, Cynthia J Tifft, et al.
Seminars in Pediatric Neurology|December 2, 2024
Chedíak-Higashi Syndrome: Hair-to-toe spectrumSunny Greene, Ariane Soldatos, Camilo Toro, et al.
Orphanet Journal of Rare Diseases|May 8, 2019
The neuropsychological phenotype of Chediak-Higashi diseaseTalia N Shirazi, Joseph Snow, Lillian Ham, et al.
JIMD Reports|March 11, 2016
A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of AlkaptonuriaBerardino Porfirio, Roberta Sestini, Greta Gorelli, et al.
JCI Insight|October 15, 2024
Type 2 innate immunity promotes the development of pulmonary fibrosis in Hermansky-Pudlak syndromeParand Sorkhdini, Kiran Klubock-Shukla, Selena Sheth, et al.
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