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pro vyhledávání: '"L. G. F. M. van't Hek"'
Autor:
Ruud B.H. Schutgens, Frits A. Wijburg, M. K. Sanders, L. G. F. M. van't Hek, J. W. E. Oorthuys, B. J. H. M. Poorthuis, D. S. Rosenblatt, G. D. Vos
Publikováno v:
European journal of pediatrics, 151(2), 127-131. Springer Verlag
Metabolic studies are described in a patient who presented at 3 weeks of age with severe anaemia, hyperbilirubinaemia and hypotonicity. Clinically, glycogen storage disease type II (Pompe disease) was suspected because of a massively enlarged heart a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::275c9c07e82ed6fcc4e03e10bc667ea6
https://pubmed.ncbi.nlm.nih.gov/1537354
https://pubmed.ncbi.nlm.nih.gov/1537354
