Rachel Laframboise Selected Research

alpha-Galactosidase (Beano)

3/2008

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.

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Rachel Laframboise Research Topics

Disease

5	Neoplasms (Cancer) 04/2016 - 10/2005
4	Tyrosinemias (Tyrosinemia) 03/2018 - 09/2012
4	Ovarian Neoplasms (Ovarian Cancer) 04/2015 - 10/2005
2	Liver Diseases (Liver Disease) 01/2017 - 09/2012
2	Breast Neoplasms (Breast Cancer) 01/2008 - 09/2006
1	De Lange Syndrome (Cornelia De Lange Syndrome) 03/2018
1	Hepatocellular Carcinoma (Hepatoma) 01/2017
1	Brain Neoplasms (Brain Tumor) 01/2016
1	Glioblastoma (Glioblastoma Multiforme) 01/2016
1	Turcot syndrome 01/2016
1	Genetic Predisposition to Disease (Genetic Predisposition) 01/2016
1	Photophobia (Light Sensitivity) 09/2012
1	Disease Progression 09/2012
1	Cardiac Arrhythmias (Arrythmia) 07/2012
1	Hematoma 07/2012
1	Carcinogenesis 12/2011
1	Dwarfism 06/2009
1	Mucopolysaccharidoses 06/2009
1	Mucopolysaccharidosis III (Sanfilippo Syndrome) 06/2009
1	Facies 06/2009
1	Blepharophimosis, Ptosis, and Epicanthus Inversus 11/2008
1	Fabry Disease (Fabry's Disease) 03/2008
1	Craniosynostoses (Craniosynostosis) 06/2002

Drug/Important Bio-Agent (IBA)

3	nitisinone (Orfadin)FDA Link 01/2017 - 09/2012
2	succinylacetoneIBA 03/2018 - 01/2017
2	fumarylacetoacetase (fumarylacetoacetate hydrolase)IBA 01/2017 - 09/2012
2	Proteins (Proteins, Gene)FDA Link 01/2014 - 10/2005
2	EnzymesIBA 06/2009 - 03/2008
2	DNA (Deoxyribonucleic Acid)IBA 09/2006 - 01/2006
1	CohesinsIBA 03/2018
1	Phenylalanine (L-Phenylalanine)FDA Link 01/2017
1	Tyrosine (L-Tyrosine)FDA Link 01/2017
1	Estrogen ReceptorsIBA 04/2016
1	Immune Checkpoint InhibitorsIBA 01/2016
1	NucleotidesIBA 04/2015
1	BRCA1 ProteinIBA 12/2011
1	Glucosamine (Dona)IBA 06/2009
1	Heparitin Sulfate (Heparan Sulfate)IBA 06/2009
1	AcetyltransferasesIBA 06/2009
1	Acetyl Coenzyme A (Acetyl-CoA)IBA 06/2009
1	alpha-N-acetyl-D-glucosaminidase (alpha-N-acetylglucosaminidase)IBA 06/2009
1	glucosamine acetyltransferaseIBA 06/2009
1	Forkhead Transcription Factors (Forkhead Box Proteins)IBA 11/2008
1	CreatinineIBA 03/2008
1	globotriaosylceramide (globotriosylceramide)IBA 03/2008
1	LipidsIBA 03/2008
1	alpha-Galactosidase (Beano)IBA 03/2008
1	Co-Repressor ProteinsIBA 01/2008
1	RNA (Ribonucleic Acid)IBA 10/2005
1	Messenger RNA (mRNA)IBA 10/2005
1	Type 2 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 2)IBA 06/2002
1	Type 3 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 3)IBA 06/2002

Therapy/Procedure

2	Liver Transplantation 01/2017 - 09/2012
1	Diet Therapy (Therapy, Diet) 01/2017
1	Therapeutics 01/2016
1	Salpingo-oophorectomy 07/2012
1	Cystotomy 07/2012