Belinda Campos-Xavier Selected Research

CODAS syndrome

11/2015	Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
7/2015	Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.

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Belinda Campos-Xavier Research Topics

Disease

2	CODAS syndrome 11/2015 - 07/2015
1	Glaucoma 01/2022
1	Hypertelorism 01/2022
1	Intellectual Disability (Idiocy) 01/2022
1	Ochronosis 11/2021
1	Hyperglycemia 08/2021
1	Hyperlactatemia 08/2021
1	Lactic Acidosis 08/2021
1	Ketosis 08/2021
1	Homocystinuria 06/2021
1	Diarrhea 03/2021
1	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome) 01/2021
1	Visceral Leishmaniasis (Kala Azar) 01/2021
1	Hemophagocytic Lymphohistiocytosis (Hemophagocytic Syndrome) 01/2021
1	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 01/2020
1	Ehlers-Danlos syndrome type 3 01/2020
1	Joint Instability (Joint Laxity) 10/2019
1	Muscle Hypotonia (Hypotonia) 10/2019
1	Osteitis Deformans (Paget's Disease of Bone) 03/2019
1	Type B Niemann-Pick Disease 03/2019
1	Osteolysis 01/2016
1	Farber Lipogranulomatosis 01/2016
1	Vomiting 12/2015
1	Dehydration (Water Stress) 12/2015
1	Fever (Fevers) 12/2015
1	Camurati-Engelmann Syndrome (Progressive Diaphyseal Dysplasia) 10/2014
1	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 10/2014
1	Muscular Diseases (Myopathy) 10/2014
1	Marfan Syndrome (Marfan's Syndrome) 10/2014
1	Chondromatosis 11/2011
1	Enchondromatosis (Ollier Disease) 04/2011

Drug/Important Bio-Agent (IBA)

2	Peptide Hydrolases (Proteases)FDA Link 11/2015 - 07/2015
2	DNA (Deoxyribonucleic Acid)IBA 11/2011 - 04/2011
1	Proteins (Proteins, Gene)FDA Link 01/2022
1	Capsules (Microcapsules)IBA 01/2022
1	Glutamine (L-Glutamine)FDA Link 01/2022
1	Insulin (Novolin)FDA Link 08/2021
1	Glucose (Dextrose)FDA LinkGeneric 08/2021
1	Lactic Acid (Lactate)FDA LinkGeneric 08/2021
1	HomocysteineIBA 06/2021
1	Chenodeoxycholic Acid (Chenix)FDA Link 03/2021
1	zinc-binding protein (zinc binding protein)IBA 01/2020
1	xylosylprotein 4-beta-galactosyltransferaseIBA 10/2019
1	neodymium pyrocatechin disulfonate (NPD)IBA 03/2019
1	Acid CeramidaseIBA 01/2016
1	EnzymesIBA 01/2016
1	Transaminases (Aminotransferases)IBA 12/2015
1	Losartan (Cozaar)FDA LinkGeneric 10/2014
1	Angiotensin II Type 1 Receptor BlockersIBA 10/2014
1	AcidsIBA 11/2011

Therapy/Procedure

1	Arthroplasty 11/2021
1	Hematopoietic Stem Cell Transplantation 01/2021