Carla Ciccone

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine

Belinda Galeano, Riko Klootwijk, Irini Manoli et al. · Journal of Clinical Investigation · 2007 · 197 citations · Full text

1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis

Galina Nesterova, May Christine V. Malicdan, Kaori Yasuda et al. · Clinical Journal of the American Society of Nephrology · 2013 · 151 citations · Full text

RETRACTED: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9

Andrew R. Cullinane, James A. Curry, Carmelo Carmona‐Rivera et al. · The American Journal of Human Genetics · 2011 · 105 citations · Full text

Pldn Is, Genetic Disorder, Genetics +6

Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

Andrew R. Cullinane, Thierry Vilboux, Kevin O’Brien et al. · Journal of Investigative Dermatology · 2011 · 73 citations · Full text

Homozygosity Mapping, Genetic Disorder, Whole-exome Sequencing +9

Safety, pharmacokinetics and sialic acid production after oral administration of N -acetylmannosamine (ManNAc) to subjects with GNE myopathy

Xin Xu, Amy Q. Wang, Lea Latham et al. · Molecular Genetics and Metabolism · 2017 · 61 citations · Full text

Gne Myopathy, N -Acetylmannosamine, Pharmacology +2