Nancy Braverman Selected Research

Zellweger Syndrome (Zellweger's Syndrome)

1/2022	Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.
10/2021	The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder.
1/2019	A longitudinal study of retinopathy in the PEX1-Gly844Asp mouse model for mild Zellweger Spectrum Disorder.
10/2018	A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.
11/2004	The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

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Nancy Braverman Research Topics

Disease

5	Rhizomelic Chondrodysplasia Punctata 01/2022 - 07/2010
5	Zellweger Syndrome (Zellweger's Syndrome) 01/2022 - 11/2004
3	Chondrodysplasia Punctata (Stippled Epiphyses) 04/2010 - 12/2004
3	Homocystinuria 03/2006 - 02/2002
2	Propionic Acidemia 01/2022 - 01/2012
2	Dystonia (Limb Dystonia) 01/2022 - 01/2018
2	Peroxisome biogenesis disorders 01/2022 - 05/2017
2	Methylmalonic acidemia 01/2022 - 01/2012
2	Brachytelephalangic Chondrodysplasia Punctata 08/2013 - 04/2008
2	X-Linked Chondrodysplasia Punctata 1 08/2013 - 04/2008
2	Hyperhomocysteinemia 03/2006 - 05/2003
2	Brain Edema (Cerebral Edema) 05/2003 - 02/2002
1	Ataxia Telangiectasia (Louis Bar Syndrome) 01/2022
1	Gamma aminobutyric acid transaminase deficiency 01/2022
1	Glutaric Acidemia I 01/2022
1	Aromatic amino acid decarboxylase deficiency 01/2022
1	Lymphoma (Lymphomas) 01/2022
1	Maple Syrup Urine Disease 01/2022
1	Melanoma (Melanoma, Malignant) 01/2022
1	Neoplasms (Cancer) 01/2022
1	Phenylketonurias (Phenylketonuria) 01/2022
1	Diffuse Large B-Cell Lymphoma (Lymphoma, Large Cell, Diffuse) 01/2022
1	Citrullinemia 01/2022
1	Hyperargininemia 01/2022
1	Ornithine Carbamoyltransferase Deficiency Disease 01/2022
1	Argininosuccinic Aciduria 01/2022
1	Mitochondrial Diseases (Mitochondrial Disease) 10/2021
1	Hypoglycemia (Reactive Hypoglycemia) 09/2021
1	Cholestasis 09/2021
1	Liver Diseases (Liver Disease) 09/2021
1	Hyperinsulinism (Hyperinsulinemia) 09/2021
1	Muscle Hypotonia (Hypotonia) 01/2020
1	Atrophy 01/2020
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2020
1	Epilepsy (Aura) 01/2020
1	Blindness (Hysterical Blindness) 01/2019
1	Sialorrhea 01/2018
1	Riddle Syndrome 06/2017
1	Choroideremia 12/2015
1	Leukoencephalopathies 04/2015
1	Respiratory Insufficiency (Respiratory Failure) 12/2011
1	Combined Malonic and Methylmalonic Aciduria 09/2011
1	Migraine with Aura (Familial Hemiplegic Migraine) 09/2010

Drug/Important Bio-Agent (IBA)

4	Methionine (L-Methionine)FDA Link 09/2021 - 02/2002
3	Proteins (Proteins, Gene)FDA Link 01/2022 - 01/2019
3	PlasmalogensIBA 01/2021 - 01/2012
3	EnzymesIBA 01/2021 - 12/2004
3	human ARSL proteinIBA 08/2013 - 12/2004
3	type 1 Rhizomelic chondrodysplasia punctataIBA 12/2011 - 04/2010
2	AmmoniaIBA 09/2021 - 01/2012
2	S-Adenosylmethionine (Ademetionine)IBA 09/2021 - 05/2003
2	HomocysteineIBA 09/2021 - 02/2002
2	LipidsIBA 12/2015 - 07/2010
2	CystathionineIBA 03/2006 - 05/2003
2	Betaine (C.B.B.)FDA Link 03/2006 - 02/2002
2	Cystathionine beta-Synthase (Serine Sulfhydrase)IBA 05/2003 - 02/2002
1	Adenylosuccinate lyase deficiencyIBA 01/2022
1	Peroxisomal Targeting SignalsIBA 01/2022
1	CRISPR-Associated Protein 9IBA 01/2022
1	Vorinostat FDA Link 01/2022
1	CRISPR-Cas Systems Guide RNAIBA 01/2022
1	Adenosine Triphosphate (ATP)IBA 01/2022
1	Carbidopa (Lodosyn)FDA LinkGeneric 01/2022
1	Chloroquine (Aralen)FDA LinkGeneric 01/2022
1	CreatineIBA 01/2022
1	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 01/2022
1	Pharmaceutical PreparationsIBA 01/2022
1	Fatty Acids (Saturated Fatty Acids)IBA 01/2022
1	Levodopa (L Dopa)FDA LinkGeneric 01/2022
1	Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA 01/2022
1	Phosphotransferases (Kinase)IBA 01/2022
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/2022
1	Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA 01/2022
1	Reactive Oxygen Species (Oxygen Radicals)IBA 01/2022
1	Sirolimus (Rapamycin)FDA Link 01/2022
1	Mitogen-Activated Protein KinasesIBA 01/2022
1	Acyl-CoA OxidaseIBA 01/2022
1	Lysosomal-Associated Membrane Protein 2IBA 01/2022
1	Histone Deacetylase InhibitorsIBA 01/2022
1	PeroxinsIBA 10/2021
1	Hypoglycemic Agents (Hypoglycemics)IBA 09/2021
1	IronIBA 09/2021
1	S-AdenosylhomocysteineIBA 09/2021
1	vinyl ether (divinyl ether)IBA 01/2020
1	COOH-terminal signal transamidaseIBA 01/2020
1	Retinaldehyde (Retinal)IBA 01/2019
1	Biomarkers (Surrogate Marker)IBA 10/2018
1	A-Form DNA (A-DNA)IBA 06/2017
1	ATPases Associated with Diverse Cellular ActivitiesIBA 05/2017
1	Phospholipids (Phosphatides)FDA LinkGeneric 01/2012
1	N-carbamylglutamateIBA 01/2012
1	malonic acid (malonate)IBA 09/2011
1	Methylmalonic AcidIBA 09/2011
1	Codon (Codons)IBA 09/2010
1	Ether (Diethyl Ether)IBA 07/2010
1	RibonucleoproteinsIBA 04/2010
1	AutoantibodiesIBA 04/2010

Therapy/Procedure

4	Therapeutics 01/2022 - 02/2002
1	Oral Administration 01/2020
1	Gastrostomy 01/2018