Concepedia

Carla Ciccone

CC

Statistics

Publications

28

Citations

1.4K

H-Index

22

Active since

2005

Affiliations

National Human Genome Research Institute(Current)

National Institutes of Health

Office of the Director

National Institutes of Health Clinical Center

Azienda Ospedaliera S.Giuseppe Moscati

Carla Ciccone is an author at National Human Genome Research Institute specializing in life sciences, genetics, and medical genetics.

Publications per year

2005–2021

28

Publications

28

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

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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

, , +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

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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

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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

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