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 · 201 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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 · 153 citations · Full text

Medicine, Nephrology, Biochemical Genetics +16

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

Life Sciences, Genetics, Molecular Genetics +4

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 · 74 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 66 citations · Full text

Pharmacy, Pharmacokinetics, Pharmacology +5