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Molecular Genetics and Metabolism|May 30, 2020
Aortic distensibility in alkaptonuriaRashmi Thimmapuram, W Patricia Bandettini, Sujata M Shanbhag, et al.
Molecular Genetics and Metabolism|November 22, 2011
Aortic stenosis and vascular calcifications in alkaptonuriaHwaida Hannoush, Wendy J Introne, Marcus Y Chen, et al.
Plos One|August 23, 2011
Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletionThierry Vilboux, Carla Ciccone, Jan K Blancato, et al.
Human Genetics|October 25, 2024
Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic featuresPrashant Sharma, Jason R McFadden, F Graeme Frost, et al.
American Journal of Nephrology|October 9, 2024
Impairment of Renal Function in Hermansky-Pudlak SyndromeTadafumi Yokoyama, Kevin J O'Brien, Tesiya M Franklin, et al.
Nature Reviews. Disease Primers|March 7, 2024
AlkaptonuriaGiulia Bernardini, Daniela Braconi, Andrea Zatkova, et al.
FEBS Letters|December 31, 2024
Insights into the renal pathophysiology in Hermansky-Pudlak syndrome-1 from urinary extracellular vesicle proteomics and a new mouse modelDawn M Maynard, Bernadette R Gochuico, Hadass Pri Chen, et al.
Molecular Genetics and Metabolism|July 30, 2018
Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosisKevin J O'Brien, Wendy J Introne, Orhan Akal, et al.
The Journal of Allergy and Clinical Immunology|December 16, 2017
An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndromeAleksandra Gil-Krzewska, Mezida B Saeed, Anna Oszmiana, et al.
Orphanet Journal of Rare Diseases|March 26, 2013
Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative diseaseJames D Weisfeld-Adams, Lakshmi Mehta, Janet C Rucker, et al.
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