William B Rizzo Selected Research

long-chain-aldehyde dehydrogenase

3/2022	Sjögren-Larsson syndrome: A biochemical rationale for using aldehyde-reactive therapeutic agents.
1/2021	Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson syndrome patients.
11/2020	Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.
1/2020	Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling.
1/2019	Genotype and phenotype variability in Sjögren-Larsson syndrome.
10/2013	Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.
11/2011	Large contiguous gene deletions in Sjögren-Larsson syndrome.
4/2011	The role of fatty aldehyde dehydrogenase in epidermal structure and function.
8/2010	Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.
2/2008	Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome.

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William B Rizzo Research Topics

Disease

20	Sjogren-Larsson Syndrome 03/2022 - 08/2004
9	Ichthyosis (Xeroderma) 12/2020 - 02/2006
6	Intellectual Disability (Idiocy) 09/2020 - 02/2006
4	Macular Degeneration (Age-Related Maculopathy) 01/2020 - 02/2006
2	Leukoencephalopathies 04/2022 - 02/2006
2	Inborn Genetic Diseases (Disease, Hereditary) 09/2017 - 08/2010
2	Neurocutaneous Syndromes (Phakomatoses) 02/2008 - 01/2007
1	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 04/2022
1	Neurodegenerative Diseases (Neurodegenerative Disease) 04/2022
1	succinic semialdehyde dehydrogenase deficiency 11/2021
1	Hyperplasia 01/2021
1	Edema (Dropsy) 01/2021
1	Neoplasms (Cancer) 10/2020
1	Metabolic Diseases (Metabolic Disease) 09/2020
1	Glycogen Storage Disease Type II (Pompe's Disease) 01/2019
1	Atrophy 01/2019
1	Anaphylaxis (Anaphylactic Shock) 11/2018
1	Communicable Diseases (Infectious Diseases) 11/2018
1	Food Hypersensitivity (Food Allergy) 11/2018
1	Hypersensitivity (Allergy) 11/2018
1	Phenylketonurias (Phenylketonuria) 11/2018
1	Zellweger Syndrome (Zellweger's Syndrome) 10/2018
1	Congenital Disorders of Glycosylation 09/2017
1	Bone Diseases (Bone Disease) 01/2016
1	Ornithine Carbamoyltransferase Deficiency Disease 01/2014
1	Cerebral Palsy (Spastic Diplegia) 10/2013
1	Quadriplegia (Spastic Quadriplegia) 10/2013
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 08/2013
1	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 08/2013
1	Refsum Disease (Refsum's Disease) 02/2012
1	Dyskinesias (Dyskinesia) 08/2010
1	Neurologic Manifestations (Neurological Manifestations) 01/2007
1	Spastic Paraparesis 02/2006
1	Disease Progression 02/2006

Drug/Important Bio-Agent (IBA)

14	long-chain-aldehyde dehydrogenaseIBA 03/2022 - 08/2004
10	AldehydesIBA 03/2022 - 01/2007
6	LipidsIBA 09/2020 - 01/2007
5	EnzymesIBA 11/2018 - 08/2004
4	Fatty AlcoholsIBA 03/2022 - 02/2008
4	AlcoholsIBA 09/2020 - 10/2013
4	Retinaldehyde (Retinal)IBA 01/2020 - 12/2011
3	Fatty Acids (Saturated Fatty Acids)IBA 04/2022 - 01/2007
3	fatty aldehydeIBA 03/2022 - 01/2007
3	Ether (Diethyl Ether)IBA 11/2020 - 03/2014
3	Proteins (Proteins, Gene)FDA Link 01/2019 - 01/2007
2	Biomarkers (Surrogate Marker)IBA 09/2020 - 10/2018
1	Lysophosphatidylcholines (Lysophosphatidylcholine)IBA 04/2022
1	gamma-Aminobutyric Acid (GABA)IBA 11/2021
1	Anesthetics (Anesthetic Agents)IBA 12/2020
1	Lipid PeroxidesIBA 10/2020
1	NucleotidesIBA 10/2020
1	CaspasesIBA 10/2020
1	Methotrexate (Mexate)FDA LinkGeneric 01/2019
1	GlucosidasesIBA 01/2019
1	AcidsIBA 01/2019
1	Macular PigmentIBA 01/2019
1	human GAA protein (Myozyme)FDA Link 01/2019
1	pegvaliaseIBA 11/2018
1	Immunoglobulin E (IgE)IBA 11/2018
1	Phenylalanine (L-Phenylalanine)FDA Link 11/2018
1	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 11/2018
1	OligosaccharidesIBA 09/2017
1	Therapeutic UsesIBA 01/2017
1	Baclofen FDA LinkGeneric 01/2017
1	PlasmalogensIBA 01/2016
1	EstersIBA 03/2014
1	Urea (Carbamide)FDA LinkGeneric 01/2014
1	Cerebroside-Sulfatase (Arylsulfatase A)IBA 08/2013
1	LanthanumIBA 08/2010
1	AminesIBA 01/2007
1	Schiff Bases (Schiff Base)IBA 01/2007
1	EicosanoidsIBA 01/2007
1	Eosine Yellowish-(YS) (Eosin)IBA 08/2006
1	Hematoxylin (Haematoxylon)IBA 08/2006
1	Protons (Proton)IBA 02/2006

Therapy/Procedure

2	Therapeutics 01/2017 - 02/2012
1	Hematopoietic Stem Cell Transplantation 04/2022
1	Catheters 12/2020
1	Anesthesia 12/2020