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Sara Giangiobbe Selected Research

xylosylprotein 4-beta-galactosyltransferase

10/2019Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.

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Sara Giangiobbe Research Topics

Disease

1Intellectual Disability (Idiocy)
09/2021
1Ewing Sarcoma (Sarcoma, Ewing)
01/2021
1Lissencephaly
01/2021
1Joint Instability (Joint Laxity)
10/2019
1Muscle Hypotonia (Hypotonia)
10/2019
1Neoplasms (Cancer)
01/2015
1Prostatic Neoplasms (Prostate Cancer)
01/2015
1Anophthalmos (Anophthalmia)
01/2014
1Hypogonadism (Hypergonadotropic Hypogonadism)
01/2014

Drug/Important Bio-Agent (IBA)

1N-Acetylneuraminic Acid (Sialic Acid)IBA
09/2021
1mannosamine (D-mannosamine)IBA
09/2021
1N-acetylneuraminate synthaseIBA
09/2021
1Checkpoint Kinase 2IBA
01/2021
1T-Lymphoma Invasion and Metastasis-inducing Protein 1IBA
01/2021
1Proteins (Proteins, Gene)FDA Link
01/2021
1xylosylprotein 4-beta-galactosyltransferaseIBA
10/2019
1AndrogensIBA
01/2015
1Biomarkers (Surrogate Marker)IBA
01/2015
1DNA (Deoxyribonucleic Acid)IBA
01/2015
1Growth Hormone (Somatotropin)IBA
01/2014