Molecular Genetics and Metabolism

Journal Abbreviation: MOL GENET METAB
ISSN: 1096-7192
Publisher: Elsevier

Publications (10)

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Unpublished / Preprint

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Abstract

Screening for health-related quality of life and its determinants in Fabry disease: A cross-sectional multicenter study (2023) Winter Y, Hilz M, Beuschlein F, Tsukimura T, Seifritz E, Lenders M, Brand E, et al. Journal article Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature (2022) Himmelreich N, Dimitrov B, Zielonka M, Hullen A, Hoffmann GF, Juenger H, Muller H, et al. Journal article Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis (2022) Nießl C, Boulesteix AL, Oh J, Palm K, Schlingmann P, Wygoda S, Haffner D, et al. Journal article Burden of illness of Fabry disease: A retrospective claims analysis of a German sickness fund database (2021) Hilz MJ, Marczykowski F, Lyn N, Werner B, Pignot M, Ponce E, Bender J, et al. Conference contribution The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts (2019) Spada M, Baron R, Elliott PM, Falissard B, Hilz MJ, Monserrat L, Tondel C, et al. Journal article, Review article Therapeutic goals in Fabry disease: Recommendations of a European expert panel, based on current clinical evidence with enzyme replacement therapy (2019) Wanner C, Gerrnain DP, Hilz MJ, Spada M, Falissard B, Elliott PM Journal article, Editorial The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts. (2019) Germain DP, Arad M, Burlina A, Elliott PM, Falissard B, Feldt-Rasmussen U, Hilz MJ, et al. Journal article European expert consensus statement on therapeutic goals in Fabry disease (2018) Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, Fomin VV, et al. Journal article Proposal of a rating scale to recognize Fabry disease in patients with nonspecific gastrointestinal symptoms (2018) Hilz MJ, Arbustini E, Dagna L, Gasbarrini A, Goizet C, Lacombe D, Liguori R, et al. Conference contribution Do we understand the pathophysiology of gastrointestinal symptoms in patients with Fabry disease? (2018) Hilz MJ, Arbustini E, Dagna L, Gasbarrini A, Goizet C, Lacombe D, Liguori R, et al. Conference contribution