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Ida Annunziata Selected Research

Threatened Abortion

7/2007Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.

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Ida Annunziata Research Topics

Disease

6Lysosomal Storage Diseases (Lysosomal Storage Disease)
03/2021 - 03/2007
5Mucolipidoses (Sialidosis)
01/2020 - 06/2014
5Multiple Sulfatase Deficiency Disease (Mucosulfatidosis)
09/2007 - 05/2003
4Neuraminidase deficiency with beta-galactosidase deficiency
12/2021 - 06/2014
2Glycoprotein Storage Disease
01/2019 - 01/2017
2Neuraminidase 1 deficiency
01/2015 - 01/2013
2Muscular Diseases (Myopathy)
03/2007 - 03/2007
2Glycogen Storage Disease Type II (Pompe's Disease)
03/2007 - 03/2007
1Congenital Abnormalities (Deformity)
03/2021
1Infections
03/2021
1COVID-19
03/2021
1GM1 Gangliosidosis (Gangliosidosis GM1)
01/2021
1Rare Diseases (Rare Disease)
01/2020
1Neoplasms (Cancer)
12/2015
1Prion Diseases (Transmissible Spongiform Encephalopathies)
01/2015
1Alzheimer Disease (Alzheimer's Disease)
01/2013
1Retinal Degeneration
06/2011
1Threatened Abortion
07/2007
1Inflammation (Inflammations)
03/2007
1Inborn Errors Metabolism (Inborn Errors of Metabolism)
05/2003
1Lathosterolosis
10/2002
1Intellectual Disability (Idiocy)
10/2002

Drug/Important Bio-Agent (IBA)

6Proteins (Proteins, Gene)FDA Link
12/2021 - 03/2007
5EnzymesIBA
01/2021 - 03/2007
5SulfatasesIBA
09/2007 - 05/2003
45'-deoxy-5'-phosphonomethyladenosine phosphateIBA
12/2021 - 06/2014
4Cathepsin AIBA
12/2021 - 01/2015
4Neuraminidase (Sialidase)IBA
01/2020 - 01/2015
4HydrolasesIBA
01/2018 - 03/2007
2GalactosidasesIBA
03/2021 - 01/2021
2Polysaccharides (Glycans)IBA
03/2021 - 01/2018
2GlycogenIBA
03/2007 - 03/2007
2Imino SugarsIBA
03/2007 - 03/2007
2miglustat (Zavesca)FDA Link
03/2007 - 03/2007
1Virus ReceptorsIBA
03/2021
1Amino AcidsFDA Link
01/2020
1Betaine (C.B.B.)FDA Link
01/2020
1OligosaccharidesIBA
01/2020
1Glycoproteins (Glycoprotein)IBA
01/2020
1Pharmaceutical PreparationsIBA
12/2015
1SialoglycoproteinsIBA
01/2015
1Lysergic Acid Diethylamide (LSD)IBA
01/2015
1Prion ProteinsIBA
01/2015
1Protein AggregatesIBA
01/2013
1Amyloid (Amyloid Fibrils)IBA
01/2013
1Peptides (Polypeptides)IBA
06/2011
1GlycosphingolipidsIBA
11/2009
1Estriol (Epiestriol)IBA
07/2007
1N-formylglycineIBA
05/2007
1CytokinesIBA
03/2007
1alpha-Glucosidases (Acid Maltase)IBA
03/2007
1GlucosidasesIBA
03/2007
1lathosterol delta-5-dehydrogenase (lathosterol oxidase)IBA
10/2002

Therapy/Procedure

6Therapeutics
01/2020 - 03/2007
2Enzyme Replacement Therapy
03/2021 - 05/2003