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Newborn screening for neuro-metabolic disorders: Strategies, clinical benefits, and prerequisites for program expansion by Mütze, Ulrike (Author) , Scharré, Svenja (Author) , Schnabel-Besson, Elena (Author) , Kuseyri Hübschmann, Oya (Author) , Hörster, Friederike (Author) , Tuncel, Ali Tunç (Author) , Kölker, Stefan (Author) , Opladen, Thomas (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

Childhood-onset hereditary spastic paraplegia and its treatable mimics by Ebrahimi-Fakhari, Darius (Author) , Saffari, Afshin (Author) , Pearl, Phillip L. (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Succinyl-CoA:3-oxoacid coenzyme a transferase (SCOT) deficiency: a rare and potentially fatal metabolic disease by Grünert, Sarah (Author) , Foster, William (Author) , Schumann, Anke (Author) , Lund, Allan (Author) , Pontes, Christina (Author) , Roloff, Sylvia (Author) , Weinhold, Natalie (Author) , Yue, Wyatt W. (Author) , AlAsmari, Ali (Author) , Obaid, Osama A. (Author) , Faqeih, Eissa Ali (Author) , Stübbe, Lisa (Author) , Yamamoto, Raina (Author) , Gemperle-Britschgi, Corinne (Author) , Walter, Melanie (Author) , Spiekerkoetter, Ute (Author) , Mackinnon, Sabrina (Author) , Sass, Jörn Oliver (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation by Delmelle, Françoise (Author) , Blau, Nenad (Author) ,

• Verlag, Volltext
• Verlag, Volltext

The incidence of urea cycle disorders by Summar, Marshall L. (Author) , Kölker, Stefan (Author) , Freedenberg, Debra (Author) , Le Mons, Cynthia (Author) , Haberle, Johannes (Author) , Lee, Hye-Seung (Author) , Kirmse, Brian (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext