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Hutter, Anna-Marlen (M.Sc., Dr. rer. nat.)
Newest Titles
- Biallelische Varianten in GZF1 und VPS45 verbinden das Larsen-Syndrom mit den "Congenital Disorders of Glycosylation" (CDG)Book/Monograph, Thesis, Online Resource
- International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow upArticle (Journal), Online Resource
- Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminusArticle (Journal), Online Resource
- Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDGArticle (Journal), Online Resource
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