J Christodoulou Selected Research

Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis

9/2017

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

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J Christodoulou Research Topics

Disease

5	Rett Syndrome (Rett's Disorder) 03/2014 - 02/2001
2	Menkes Kinky Hair Syndrome (Menkes Disease) 09/2017 - 01/2013
1	Seizures (Absence Seizure) 01/2018
1	Absent corpus callosum cataract immunodeficiency 01/2018
1	Brain Diseases (Brain Disorder) 01/2018
1	Gerodermia osteodysplastica 09/2017
1	Transaldolase Deficiency 09/2017
1	Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 09/2017
1	Congenital Disorders of Glycosylation 09/2017
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 09/2017
1	Cutis Laxa 09/2017
1	Multiple Carboxylase Deficiency (Deficiency, Multiple Carboxylase) 01/2017
1	Autosomal Recessive 3 Severe Congenital Neutropenia 02/2016
1	Megaloblastic Anemia 05/2014
1	Neurodevelopmental Disorders 03/2014
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2013
1	Maple Syrup Urine Disease 09/2011
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 12/2009
1	3-Methylglutaconic Aciduria 12/2008
1	Riboflavin Deficiency 09/2007
1	Ornithine Carbamoyltransferase Deficiency Disease 06/2007
1	Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome) 08/2006
1	Cerebral Palsy (Spastic Diplegia) 08/2006
1	Inborn Genetic Diseases (Disease, Hereditary) 08/2006
1	Germ Cell and Embryonal Neoplasms (Germ Cell Tumor) 06/2004
1	Refractory Anemia 06/2004
1	Myelodysplastic Syndromes (Myelodysplastic Syndrome) 06/2004
1	Coronary Artery Disease (Coronary Atherosclerosis) 09/2001
1	Gaucher Disease (Gaucher's Disease) 03/2000
1	Ichthyosis (Xeroderma) 03/2000

Drug/Important Bio-Agent (IBA)

4	Methyl-CpG-Binding Protein 2IBA 03/2014 - 02/2001
2	Copper-Transporting ATPasesIBA 09/2017 - 01/2013
2	EnzymesIBA 09/2017 - 08/2006
1	Autophagy-Related Protein 5IBA 01/2018
1	FHDIBA 01/2018
1	Fumarate Hydratase (Fumarase)IBA 01/2018
1	Fumaric aciduriaIBA 01/2018
1	Valine (L-Valine)FDA Link 09/2017
1	Coenzyme A (CoA)IBA 09/2017
1	TransaldolaseIBA 09/2017
1	Proton-Translocating ATPases (ATPase, H+)IBA 09/2017
1	delta-1-pyrroline-5-carboxylateIBA 09/2017
1	Non-Receptor Type 11 Protein Tyrosine PhosphataseIBA 09/2017
1	Golgi Matrix ProteinsIBA 09/2017
1	Amino Acids FDA Link 09/2017
1	Guanine Nucleotide Exchange Factors (Guanine Nucleotide Exchange Factor)IBA 09/2017
1	GTP Phosphohydrolases (GTPases)IBA 09/2017
1	Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA 09/2017
1	Phosphotransferases (Kinase)IBA 09/2017
1	Oxidoreductases (Dehydrogenase)IBA 09/2017
1	Fatty Acids (Saturated Fatty Acids)IBA 09/2017
1	Ornithine-Oxo-Acid Transaminase (Ornithine Aminotransferase)IBA 09/2017
1	Leucine (L-Leucine)FDA Link 09/2017
1	MitogensIBA 09/2017
1	Proteins (Proteins, Gene)FDA Link 09/2017
1	propionylcarnitineIBA 01/2017
1	DiamondIBA 02/2016
1	HomocysteineIBA 05/2014
1	Methylmalonic AcidIBA 05/2014
1	Dihydrotachysterol (AT 10)IBA 01/2013
1	Branched-Chain Amino AcidsIBA 09/2011
1	Diazoxide (Hyperstat)FDA Link 12/2009
1	Brain-Derived Neurotrophic Factor (BDNF)IBA 04/2009
1	3-methylglutaric acidIBA 12/2008
1	Acyl Coenzyme A (Acyl CoA)IBA 09/2007
1	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 06/2007
1	CitrullineIBA 06/2007
1	Hypoxanthine Phosphoribosyltransferase (Hypoxanthine Guanine Phosphoribosyltransferase)IBA 08/2006
1	Cisplatin (Platino)FDA LinkGeneric 06/2004
1	Etoposide (VP 16)FDA LinkGeneric 06/2004
1	Ifosfamide FDA LinkGeneric 06/2004
1	Paclitaxel (Taxol)FDA LinkGeneric 06/2004
1	Carnitine (L-Carnitine)FDA LinkGeneric 12/2001
1	CalciumIBA 09/2001
1	Glucosylceramidase (Glucocerebrosidase)IBA 03/2000
1	Collodion (Nitrocellulose)IBA 03/2000

Therapy/Procedure

1	Therapeutics 12/2009
1	Herniorrhaphy 08/2006