Query author contributions in Reactome

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Details on Person Waterham, Hans R

Class:Id	Person:9033820
_displayName	Waterham, Hans R
_timestamp	2017-12-28 17:57:11
created	[InstanceEdit:9033817] May, Bruce, 2017-12-28
firstname	Hans R
initial	HR
surname	Waterham
(author)	[LiteratureReference:9033827] A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform [LiteratureReference:9033860] Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1 [LiteratureReference:9033903] Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines [LiteratureReference:9036568] Human disorders of peroxisome metabolism and biogenesis [LiteratureReference:9859042] Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria [LiteratureReference:9916589] Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency [LiteratureReference:9916629] Clinical and biochemical characterization of four patients with mutations in ECHS1 [LiteratureReference:9916882] HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase [LiteratureReference:9968546] Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis
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No pathways have been reviewed or authored by Waterham, Hans R (9033820)