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Early prediction of phenotypic severity in Citrullinemia Type 1.
Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Zielonka M, et al. Among authors: kolker s. Ann Clin Transl Neurol. 2019 Sep;6(9):1858-1871. doi: 10.1002/acn3.50886. Epub 2019 Aug 30. Ann Clin Transl Neurol. 2019. PMID: 31469252 Free PMC article.
Myotonic dystrophy associated with VACTERL? A case report.
Kölker S, Degen I, Koch MC, Lindner M, Haas D, Hoffmann GF. Kölker S, et al. Neuropediatrics. 2001 Feb;32(1):53-4. doi: 10.1055/s-2001-12220. Neuropediatrics. 2001. PMID: 11318010 No abstract available.
327 results