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2020
[x]
Sacherschließung
Humans [MeSH]
(17)
Research
(12)
Surveys and Questionnaires [MeSH]
(3)
Rare disease
(3)
Review
(2)
Phenotype [MeSH]
(2)
Male [MeSH]
(2)
Lysosomal storage diseases
(2)
Inherited metabolic diseases
(2)
Germany [MeSH]
(2)
Publikationstyp
Artikel
(17)
Medium
Erscheinungsjahr
Institution
17 Treffer
Seiten
1
2
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Kurzansicht
E-Jahr
Zugriff
Typ
Operations
Retained primary teeth in STAT3 hyper-IgE syndrome: early intervention in childhood is essential
2020 .
Meixner, Iris
|
Hagl, Beate
|
Kröner, Carolin I.
|
Spielberger, Benedikt D.
|
Paschos, Ekaterini
|
Dückers, Gregor
|
Niehues, Tim
|
Hesse, Ronny
|
Renner, Ellen
2020
http://purl.org/ontology/bibo/Article
Revesz syndrome revisited
2020 .
Karremann, Michael
|
Neumaier-Probst, Eva
|
Schlichtenbrede, Frank
|
Beier, Fabian
|
Brümmendorf, Tim H.
|
Cremer, Friedrich W.
|
Bader, Peter
|
Dürken, Matthias
2020
http://purl.org/ontology/bibo/Article
Diagnosis of Rare Diseases: a scoping review of clinical decision support systems
2020 .
Schaaf, Jannik
|
Sedlmayr, Martin
|
Schaefer, Johanna
|
Storf, Holger
2020
http://purl.org/ontology/bibo/Article
Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)
2020 .
Taday, Roman
|
Grüneberg, Marianne
|
DuChesne, Ingrid
|
Reunert, Janine
|
Marquardt, Thorsten
2020
http://purl.org/ontology/bibo/Article
English version of the self-administered Fabry Pain Questionnaire for adult patients
2020 .
Jovanovic, Ana
|
Klassen, Philipp
|
Heuschmann, Peter
|
Sommer, Claudia
|
Roberts, Mark
|
Üçeyler, Nurcan
2020
http://purl.org/ontology/bibo/Article
The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis
2020 .
Hennermann, Julia B.
|
Guffon, Nathalie
|
Cattaneo, Federica
|
Ceravolo, Ferdinando
|
Borgwardt, Line
|
Lund, Allan M.
|
Gil-Campos, Mercedes
|
Tylki-Szymanska, Anna
|
Muschol, Nicole M.
2020
http://purl.org/ontology/bibo/Article
Patient-reported outcomes on familial amyloid polyneuropathy (FAP)
2020 .
Bolte, Fabian Johannes
|
Langenstroer, Christel
|
Friebel, Frauke
|
Hüsing-Kabar, Anna
|
Dugas, Martin
|
Schmidt, Hartmut H.
2020
http://purl.org/ontology/bibo/Article
Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib
2020 .
Grünert, Sarah Catharina
|
Elling, Roland
|
Maag, Bärbel
|
Wortmann, Saskia B.
|
Derks, Terry G. J.
|
Hannibal, Luciana
|
Schumann, Anke
|
Rosenbaum-Fabian, Stefanie
|
Spiekerkoetter, Ute
2020
http://purl.org/ontology/bibo/Article
Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence
2020 .
Bork, Konrad
|
Machnig, Thomas
|
Wulff, Karin
|
Witzke, Guenther
|
Prusty, Subhransu
|
Hardt, Jochen
2020
http://purl.org/ontology/bibo/Article
Therapeutic options for patients with rare rheumatic diseases: a systematic review and meta-analysis
2020 .
Bender, Tim T. A.
|
Leyens, Judith
|
Sellin, Julia
|
Kravchenko, Dmitrij
|
Conrad, Rupert
|
Dr. Mücke, Martin
|
Seidel, Matthias F.
2020
http://purl.org/ontology/bibo/Article
Seiten
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