Journal of Inherited Metabolic Disease

Journal Abbreviation: J INHERIT METAB DIS
ISSN: 0141-8955
Publisher: Springer Verlag (Germany)

Publications (5)

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Journal article
Unpublished / Preprint

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Abstract

MRI in LARS1 deficiency—Spectrum, patterns, and correlation with acute neurological deterioration (2024) Hammann N, Lenz D, Bianzano A, Husain RA, Forman E, Bernstein JA, Dattner T, et al. Journal article Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples (2023) Maier EM, Mütze U, Janzen N, Steuerwald U, Nennstiel U, Odenwald B, Schuhmann E, et al. Journal article Congenital disorders of glycosylation with defective fucosylation (2021) Huellen A, Falkenstein K, Weigel C, Huidekoper H, Naumann-Bartsch N, Spenger J, Feichtinger RG, et al. Journal article Newborn screening and disease variants predict neurological outcome in isovaleric aciduria (2021) Muetze U, Henze L, Gleich F, Lindner M, Gruenert SC, Spiekerkoetter U, Santer R, et al. Journal article N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics (2016) Abela L, Simmons L, Steindl K, Schmitt B, Mastrangelo M, Joset P, Papuc M, et al. Journal article