DOI:
10.1055/s-00000041
Neuropediatrics
Ausgabe 02 ·
Volume 55 ·
April 2024
DOI: 10.1055/s-014-59293
Editorial
Review Article
Original Article
Short Communication
140
Thiels, Charlotte;
Lücke, Thomas;
Rothoeft, Tobias;
Lukas, Carsten;
Nguyen, Huu P.;
von Kleist-Retzow, Juergen-Christoph;
Prokisch, Holger;
Grimmel, Mona;
Haack, Tobias B.;
Hoffjan, Sabine:
ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease
Short Communications
129
Saracino, Annalisa;
Totaro, Martina;
Politano, Davide;
DE Giorgis, Valentina;
Gana, Simone;
Papalia, Grazia;
Pichiecchio, Anna;
Plumari, Massimo;
Rognone, Elisa;
Varesio, Costanza;
Orcesi, Simona:
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives
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