Showing results (21-30 of 50) with videos related to

Sort By:
Pageof 5
JAMA Network Open|March 24, 2020
Assessment of Thyroid Function in Patients With AlkaptonuriaShirisha Avadhanula, Wendy J Introne, Sungyoung Auh, et al.
Journal of Inherited Metabolic Disease|May 15, 2025
Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment StatusKendall A Flaharty, Vibha Chandrasekar, Irene J Castillo, et al.
The New England Journal of Medicine|December 27, 2002
Natural history of alkaptonuriaChanika Phornphutkul, Wendy J Introne, Monique B Perry, et al.
Medrxiv : the Preprint Server for Health Sciences|March 31, 2025
Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment StatusKendall A Flaharty, Vibha Chandrasekar, Irene J Castillo, et al.
Molecular Genetics and Metabolism|August 9, 2024
Patient-reported outcomes and functional assessments of patients with Alkaptonuria in a 3-year Nitisinone treatment trialKathryn R Spears, Francis Rossignol, Monique B Perry, et al.
American Journal of Medical Genetics. Part A|October 21, 2025
Growth Standards for Children With Smith-Magenis Syndrome (SMS)Julie Hoover-Fong, John McGready, Leah Fleming, et al.
Molecular Genetics and Metabolism|May 31, 2011
A 3-year randomized therapeutic trial of nitisinone in alkaptonuriaWendy J Introne, Monique B Perry, James Troendle, et al.
Orphanet Journal of Rare Diseases|February 23, 2019
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruisingBradley Power, Carlos R Ferreira, Dong Chen, et al.
The Journal of Allergy and Clinical Immunology|October 20, 2015
Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cellsAleksandra Gil-Krzewska, Stephanie M Wood, Yousuke Murakami, et al.
Cellular and Molecular Life Sciences : CMLS|January 27, 2023
LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and sizeJenny Serra-Vinardell, Maxwell B Sandler, Raffaella De Pace, et al.
Pageof 5