Ingrid Du Chesne

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening

Janine Reunert, Manfred Fobker, Frank Kannenberg et al. · EBioMedicine · 2015 · 72 citations · Full text

Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene.

Thomas Deufel, Ralf Sudbrak, Y Feist et al. · PubMed · 1995 · 70 citations

Life with too much polyprenol: polyprenol reductase deficiency

J.E.H. Gründahl, Ziqiang Guan, Stephan Rust et al. · Molecular Genetics and Metabolism · 2011 · 51 citations · Full text

Polyprenol Reductase Deficiency, Biochemistry, Endocrine Disease +6

Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the α1, β1, and γ subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect

Ralf Sudbrak, Astrid Golla, Kirk J. Hogan et al. · Human Molecular Genetics · 1993 · 43 citations

Limitations of galactose therapy in phosphoglucomutase 1 deficiency

Kristine Nolting, Julien H. Park, Laura C. Tegtmeyer et al. · Molecular Genetics and Metabolism Reports · 2017 · 36 citations · Full text