Alice Goldenberg Selected Research

Malonic aciduria

11/2021

Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.

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Alice Goldenberg Research Topics

Disease

10	Intellectual Disability (Idiocy) 01/2020 - 09/2009
5	Neurodevelopmental Disorders 01/2020 - 09/2009
4	Microcephaly 01/2020 - 09/2011
3	Seizures (Absence Seizure) 11/2021 - 05/2018
3	Ataxia (Dyssynergia) 01/2020 - 11/2013
2	De Lange Syndrome (Cornelia De Lange Syndrome) 07/2022 - 01/2022
2	Hypoglycemia (Reactive Hypoglycemia) 11/2021 - 08/2002
2	Muscle Hypotonia (Hypotonia) 01/2019 - 10/2009
2	Acrodysostosis 11/2018 - 04/2012
2	Guanidinoacetate methyltransferase deficiency 05/2018 - 12/2012
2	Movement Disorders (Movement Disorder) 05/2018 - 09/2015
2	Epilepsy (Aura) 09/2015 - 11/2013
2	Dystonia (Limb Dystonia) 09/2015 - 11/2013
2	Infections 05/2013 - 04/2005
2	Lissencephaly 06/2010 - 11/2007
1	Mucopolysaccharidosis IV (Morquio Syndrome) 01/2022
1	Mucopolysaccharidoses 01/2022
1	Failure to Thrive 11/2021
1	Cardiomyopathies (Cardiomyopathy) 11/2021
1	Acidosis 11/2021
1	Autoimmune Diseases (Autoimmune Disease) 01/2020
1	Autism Spectrum Disorder 01/2020
1	Asperger Syndrome (Asperger's Syndrome) 01/2020
1	Pseudopseudohypoparathyroidism 01/2020
1	Pseudohypoparathyroidism 01/2020
1	Peripheral Nervous System Diseases (PNS Diseases) 01/2020
1	Myotonic Dystrophy (Dystrophia Myotonica) 01/2020
1	Cataract (Cataracts) 01/2019
1	Alopecia (Baldness) 01/2019
1	Bipolar Disorder (Manic Depressive Psychosis) 11/2018
1	Brachydactyly 11/2018
1	Dysostoses 11/2018
1	Ring Chromosome 20 Syndrome 11/2018
1	Congenital Abnormalities (Deformity) 01/2018
1	Hypertrichosis 01/2018
1	Cystinuria 07/2017
1	Nephrolithiasis 07/2017
1	Ciliary Motility Disorders (Primary Ciliary Dyskinesia) 01/2017
1	Hydrocephalus (Hydrocephaly) 01/2017
1	Meckel syndrome type 1 01/2017
1	Spondylocarpotarsal synostosis 12/2016
1	Cardiomegaly (Heart Hypertrophy) 01/2016
1	Glut1 Deficiency Syndrome 09/2015
1	Inborn Genetic Diseases (Disease, Hereditary) 09/2015
1	Heart Failure 05/2013
1	3-Methylglutaconic Aciduria 05/2013
1	Malformed Nails (Pachyonychia) 01/2012
1	Gingivitis 01/2012
1	Palmoplantar Keratoderma (Keratosis Palmaris et Plantaris) 01/2012
1	Deafness (Deaf Mutism) 09/2011
1	Brain Diseases (Brain Disorder) 09/2011
1	Polymicrogyria 09/2011
1	Classical Lissencephalies and Subcortical Band Heterotopias 06/2010

Drug/Important Bio-Agent (IBA)

3	Biological ProductsIBA 01/2020 - 09/2009
3	Nonsense Codon (Nonsense Mutation)IBA 01/2018 - 05/2003
2	RNA (Ribonucleic Acid)IBA 07/2022 - 01/2018
2	ChromatinIBA 01/2020 - 01/2018
2	Hormones (Hormone)IBA 11/2018 - 04/2012
2	CreatineIBA 05/2018 - 11/2013
2	Histone MethyltransferasesIBA 01/2018 - 01/2018
2	Proteins (Proteins, Gene)FDA Link 01/2017 - 12/2016
2	EnzymesIBA 09/2011 - 08/2003
2	TubulinIBA 06/2010 - 11/2007
1	5' Untranslated Regions (5' UTR)IBA 01/2022
1	GalactosidasesIBA 01/2022
1	Malonic aciduriaIBA 11/2021
1	Phosphotransferases (Kinase)IBA 01/2020
1	Fragile X Mental Retardation ProteinIBA 01/2020
1	Carrier Proteins (Binding Protein)IBA 01/2020
1	asparaginyl-tRNA synthetaseIBA 01/2020
1	Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA 01/2020
1	Guanine NucleotidesIBA 01/2020
1	Transcription Factors (Transcription Factor)IBA 01/2020
1	5-phenylpent-4-enyl-1-hydroperoxideIBA 01/2020
1	NucleotidesIBA 01/2020
1	CholesterolIBA 01/2019
1	DNA (Deoxyribonucleic Acid)IBA 01/2019
1	lanosterol synthaseIBA 01/2019
1	LithiumIBA 11/2018
1	Guanidinoacetate N-Methyltransferase (Guanidinoacetate Methyltransferase)IBA 05/2018
1	glycocyamineIBA 05/2018
1	Histones (Histone)IBA 01/2018
1	Ethylnitrosourea (N-Ethyl-N-nitrosourea)IBA 01/2018
1	Cystine (L-Cystine)IBA 07/2017
1	Amino Acids FDA Link 07/2017
1	Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA 01/2017
1	Dyneins (Dynein)IBA 01/2017
1	Axonemal DyneinsIBA 01/2017
1	Semaphorins (Semaphorin)IBA 01/2016
1	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 01/2016
1	CarbohydratesIBA 09/2015
1	Glucose (Dextrose)FDA LinkGeneric 09/2015
1	Arginine (L-Arginine)FDA Link 05/2013
1	X-linked Creatine deficiencyIBA 12/2012
1	MicroRNAs (MicroRNA)IBA 09/2011
1	Fumarate Hydratase (Fumarase)IBA 09/2011
1	FumaratesIBA 09/2011
1	VLDL LipoproteinsIBA 06/2010
1	Protein Isoforms (Isoforms)IBA 10/2009

Therapy/Procedure

1	Heart Transplantation (Grafting, Heart) 05/2013