Hans R Waterham Selected Research

HEM dysplasia

8/2013	Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.
4/2003	Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.

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Hans R Waterham Research Topics

Disease

15	Zellweger Syndrome (Zellweger's Syndrome) 01/2021 - 01/2002
13	Peroxisomal Disorders (Peroxisomal Disorder) 01/2020 - 02/2003
13	Mevalonate Kinase Deficiency 01/2016 - 10/2002
8	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 01/2021 - 12/2008
8	Fever (Fevers) 01/2016 - 12/2002
6	Peroxisome biogenesis disorders 01/2021 - 01/2003
6	Rhizomelic Chondrodysplasia Punctata 01/2021 - 04/2012
6	Inborn Genetic Diseases (Disease, Hereditary) 09/2013 - 01/2006
5	Hypoglycemia (Reactive Hypoglycemia) 01/2022 - 06/2005
5	Refsum Disease (Refsum's Disease) 12/2020 - 02/2003
4	VLCAD deficiency 09/2021 - 01/2015
4	Inflammation (Inflammations) 01/2021 - 12/2002
4	Cardiomyopathies (Cardiomyopathy) 01/2019 - 06/2005
4	Medium chain acyl CoA dehydrogenase deficiency 01/2019 - 08/2005
3	Neoplasms (Cancer) 10/2020 - 05/2002
3	Liver Diseases (Liver Disease) 10/2019 - 01/2015
3	Disease Progression 01/2019 - 06/2009
3	Short chain Acyl CoA dehydrogenase deficiency 03/2010 - 11/2003
3	Hepatomegaly 10/2008 - 04/2002
2	Metabolic Bone Diseases (Osteopenia) 01/2022 - 04/2011
2	Nervous System Diseases (Neurological Disorders) 12/2021 - 01/2021
2	Multiple Acyl Coenzyme A Dehydrogenase Deficiency 09/2021 - 12/2005
2	Riboflavin Deficiency 09/2021 - 10/2012
2	Brain Diseases (Brain Disorder) 01/2019 - 11/2005
2	Body Weight (Weight, Body) 01/2019 - 01/2017
2	Muscular Diseases (Myopathy) 01/2019 - 12/2015
2	Coma (Comas) 01/2019 - 09/2014
2	Demyelinating Diseases (Demyelinating Disease) 09/2014 - 02/2009
2	Liver Failure 01/2014 - 08/2010
2	HEM dysplasia 08/2013 - 04/2003
2	Pelger-Huet Anomaly 08/2013 - 04/2003
2	Trifunctional Protein Deficiency With Myopathy And Neuropathy 01/2013 - 03/2006
2	Deafness (Deaf Mutism) 02/2011 - 04/2002
2	Primary hyperoxaluria type 1 02/2009 - 08/2004
2	Hemolysis 06/2005 - 11/2003
1	Vomiting 01/2022
1	Failure to Thrive 01/2022
1	Acidosis 01/2022
1	3-Hydroxyisobutyric aciduria 01/2022
1	Blindness (Hysterical Blindness) 09/2021
1	Gyrate Atrophy 09/2021
1	Prostatic Neoplasms (Prostate Cancer) 10/2020
1	succinic semialdehyde dehydrogenase deficiency 01/2020
1	Ataxia (Dyssynergia) 11/2019

Drug/Important Bio-Agent (IBA)

28	EnzymesIBA 01/2022 - 01/2002
18	Fatty Acids (Saturated Fatty Acids)IBA 12/2020 - 04/2002
13	Proteins (Proteins, Gene)FDA Link 01/2021 - 02/2003
9	Terpenes (Terpenoids)IBA 01/2021 - 10/2002
8	mevalonate kinaseIBA 01/2016 - 10/2002
7	CholesterolIBA 01/2018 - 01/2002
6	Oxidoreductases (Dehydrogenase)IBA 01/2022 - 11/2005
6	LipidsIBA 12/2021 - 10/2007
5	Phytanic AcidIBA 12/2020 - 02/2003
5	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 01/2019 - 08/2005
4	Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA 09/2021 - 06/2005
4	Bile Acids and Salts (Bile Acids)IBA 10/2019 - 01/2007
4	Phospholipids (Phosphatides)FDA LinkGeneric 01/2018 - 04/2012
4	Coenzyme A (CoA)IBA 01/2017 - 11/2005
4	Mitochondrial Trifunctional ProteinIBA 01/2013 - 06/2005
4	Immunoglobulin D (IgD)IBA 08/2006 - 12/2002
3	Ether (Diethyl Ether)IBA 12/2021 - 12/2017
3	Amino Acids FDA Link 09/2021 - 05/2002
3	acylcarnitineIBA 09/2021 - 11/2003
3	SterolsIBA 01/2021 - 02/2007
3	PlasmalogensIBA 01/2021 - 02/2009
3	ATP-Binding Cassette Transporters (ABC Transporters)IBA 01/2019 - 03/2011
3	Cholic AcidIBA 01/2019 - 11/2016
3	Acyl Coenzyme A (Acyl CoA)IBA 01/2019 - 08/2006
3	DNA (Deoxyribonucleic Acid)IBA 01/2019 - 11/2003
3	phytanoyl-coenzyme A (phytanoyl CoA)IBA 01/2017 - 02/2003
3	Mixed Function Oxygenases (Monooxygenases)IBA 01/2017 - 02/2003
3	type 1 Rhizomelic chondrodysplasia punctataIBA 01/2017 - 02/2003
3	Riboflavin (Vitamin B2)FDA LinkGeneric 10/2012 - 03/2010
2	Valine (L-Valine)FDA Link 01/2022 - 12/2013
2	Thioctic Acid (Lipoic Acid)IBA 01/2022 - 12/2013
2	AcidsIBA 09/2021 - 01/2015
2	hexachlorocyclohexane x-factorIBA 01/2021 - 01/2020
2	Triglycerides (Triacylglycerol)IBA 01/2019 - 01/2018
2	Lactic Acid (Lactate)FDA LinkGeneric 01/2018 - 08/2010
2	Carnitine (L-Carnitine)FDA LinkGeneric 11/2017 - 01/2017
2	Transaminases (Aminotransferases)IBA 11/2016 - 08/2010
2	Adenosine Triphosphate (ATP)IBA 09/2014 - 03/2011
2	Complementary DNA (cDNA)IBA 07/2011 - 12/2008
2	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 04/2011 - 04/2008
2	ethylmalonic acid (ethylmalonate)IBA 03/2010 - 11/2003
2	Flavin-Adenine Dinucleotide (FAD)IBA 03/2010 - 12/2005
2	LipopolysaccharidesIBA 11/2008 - 04/2008
2	Interleukin-1beta (Interleukin 1 beta)IBA 11/2008 - 10/2002
2	Peroxisomal Targeting Signal 2 ReceptorIBA 03/2004 - 02/2003
1	Biotin (Vitamin H)FDA Link 01/2022
1	3-hydroxyisobutyric acidIBA 01/2022
1	AntioxidantsIBA 01/2022
1	Pantothenic Acid (Calcium Pantothenate)FDA Link 01/2022
1	OrnithineIBA 09/2021
1	Lactose FDA LinkGeneric 09/2021
1	geranylgeranyl pyrophosphate (geranylgeranyl diphosphate)IBA 01/2021
1	Aldehyde DehydrogenaseIBA 01/2020
1	gamma-Aminobutyric Acid (GABA)IBA 01/2020
1	Succinate-Semialdehyde Dehydrogenase (Succinic Semialdehyde Dehydrogenase)IBA 01/2020

Therapy/Procedure

4	Therapeutics 01/2019 - 02/2007