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Development (Cambridge, England)|July 15, 2010
A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3Wuhong Pei, Lisa E Kratz, Isa Bernardini, et al.
Human Mutation|May 7, 2014
Mutation update for GNE gene variants associated with GNE myopathyFrank V Celeste, Thierry Vilboux, Carla Ciccone, et al.
JAMA Network Open|March 24, 2020
Assessment of Thyroid Function in Patients With AlkaptonuriaShirisha Avadhanula, Wendy J Introne, Sungyoung Auh, et al.
The Journal of Investigative Dermatology|June 17, 2011
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropeniaAndrew R Cullinane, Thierry Vilboux, Kevin O'Brien, et al.
BMC Neurology|January 31, 2007
Intravenous immune globulin in hereditary inclusion body myopathy: a pilot studySusan Sparks, Goran Rakocevic, Galen Joe, et al.
American Journal of Human Genetics|June 14, 2011
A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9Andrew R Cullinane, James A Curry, Carmelo Carmona-Rivera, et al.
The Journal of Clinical Investigation|June 6, 2007
Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamineBelinda Galeano, Riko Klootwijk, Irini Manoli, et al.
Clinical Journal of the American Society of Nephrology : CJASN|January 8, 2013
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of NephrolithiasisGalina Nesterova, May Christine Malicdan, Kaori Yasuda, et al.
Molecular Genetics and Metabolism Reports|November 24, 2025
Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorderMarya S Sabir, Kostantin Dobrenis, Allisandra K Rha, et al.
Molecular Genetics and Metabolism|June 24, 2017
Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathyXin Xu, Amy Q Wang, Lea L Latham, et al.
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