Concepedia

H. Rusch

HR

Statistics

Publications

5

Citations

247

H-Index

5

Active since

1996

Affiliations

Amsterdam UMC Location University of Amsterdam(Current)

University of Amsterdam

H. Rusch is an author at Amsterdam UMC Location University of Amsterdam specializing in life sciences, biochemistry, and genetics.

Publications per year

1996–2016

5

Publications

5

Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X (SCPx) Cause Leukencephalopathy with Dystonia and Motor Neuropathy

Sacha Ferdinandusse, Panagiotis Kostopoulos, Simone Denis et al. · The American Journal of Human Genetics · 2006 · 141 citations · Full text

, , +11

Stereochemistry of the peroxisomal branched-chain fatty acid α- and β-oxidation systems in patients suffering from different peroxisomal disorders

Sacha Ferdinandusse, H. Rusch, A. E. M. van Lint et al. · Journal of Lipid Research · 2002 · 49 citations · Full text

, , +16

A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability

Thalita Figueiredo, Uirá Souto Melo, André Luiz Santos Pessoa et al. · Molecular Psychiatry · 2015 · 29 citations · Full text

, , +16

Simple steatosis sensitizes cholestatic rats to liver injury and dysregulates bile salt synthesis and transport

Daniël A. Lionarons, Michal Heger, Rowan F. van Golen et al. · Scientific Reports · 2016 · 17 citations · Full text

, , +17

Improved selectivity of urinary oligosaccharide screening using two one‐dimensional TLC systems

N. G. G. M. Abeling, H. Rusch, A. H. van Gennip · Journal of Inherited Metabolic Disease · 1996 · 11 citations

, , +5

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