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Heleen Te Brinke Selected Research

Hyperlysinemias (Hyperlysinemia)

9/2014Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.
4/2013Genetic basis of hyperlysinemia.

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Heleen Te Brinke Research Topics

Disease

2Nervous System Diseases (Neurological Disorders)
12/2021 - 01/2021
2Hyperlysinemias (Hyperlysinemia)
09/2014 - 04/2013
2Hypoglycemia (Reactive Hypoglycemia)
12/2013 - 04/2008
1Metabolic Diseases (Metabolic Disease)
01/2021
1Mitochondrial Diseases (Mitochondrial Disease)
01/2021
1Mucopolysaccharidoses
11/2017
1Neurodegenerative Diseases (Neurodegenerative Disease)
11/2017
1Inborn Genetic Diseases (Disease, Hereditary)
11/2015
1Obesity
07/2011
1Cardiomyopathies (Cardiomyopathy)
04/2008
1Autosomal Recessive 31 Deafness
03/2006
1Hearing Loss (Hearing Impairment)
03/2006

Drug/Important Bio-Agent (IBA)

3LipidsIBA
12/2021 - 07/2011
3Fatty Acids (Saturated Fatty Acids)IBA
12/2013 - 04/2008
2Ether (Diethyl Ether)IBA
12/2021 - 01/2021
2Proteins (Proteins, Gene)FDA Link
01/2021 - 03/2006
2Lysine (L-Lysine)FDA Link
09/2014 - 04/2013
1Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)IBA
01/2021
1HydrolasesIBA
11/2017
1N-sulfoglucosamine sulfohydrolase (sulfamidase)IBA
11/2017
1Malonyl Coenzyme A (Malonyl CoA)IBA
11/2015
1Oxidoreductases (Dehydrogenase)IBA
09/2014
1Unsaturated Fatty Acids (Polyunsaturated Fatty Acids)IBA
09/2014
1NADP (NADPH)IBA
09/2014
1Coenzyme A (CoA)IBA
09/2014
1Liver GlycogenIBA
12/2013
1Glucose (Dextrose)FDA LinkGeneric
12/2013
1Amino AcidsFDA Link
12/2013